SNP Links for Gene (Select 6949) - SNP

Links from Gene

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Select item 14913729391.

rs1491372939 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:150382177 (GRCh38)
5:149761740 (GRCh37)
Canonical SPDI:: NC_000005.10:150382173:AGAGA:AGA
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150382175GA[1], NC_000005.9:g.149761738GA[1], NG_011341.1:g.29537GA[1]

Select item 14913248582.

rs1491324858 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:150382174 (GRCh38)
5:149761738 (GRCh37)
Canonical SPDI:: NC_000005.10:150382174:G:GG
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000177/3 (TOMMO)
HGVS:: NC_000005.10:g.150382175dup, NC_000005.9:g.149761738dup, NG_011341.1:g.29537dup

Select item 14911696483.

rs1491169648 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 5:150380087 (GRCh38)
5:149759651 (GRCh37)
Canonical SPDI:: NC_000005.10:150380087:A:AGA
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150380088_150380089insGA, NC_000005.9:g.149759651_149759652insGA, NG_011341.1:g.27450_27451insGA

Select item 14909996434.

rs1490999643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:150363748 (GRCh38)
5:149743311 (GRCh37)
Canonical SPDI:: NC_000005.10:150363747:A:G
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150363748A>G, NC_000005.9:g.149743311A>G, NG_011341.1:g.11110A>G

Select item 14909927575.

rs1490992757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:150364376 (GRCh38)
5:149743939 (GRCh37)
Canonical SPDI:: NC_000005.10:150364375:G:T
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150364376G>T, NC_000005.9:g.149743939G>T, NG_011341.1:g.11738G>T

Select item 14909475306.

rs1490947530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:150392139 (GRCh38)
5:149771702 (GRCh37)
Canonical SPDI:: NC_000005.10:150392138:T:C
Gene:: TCOF1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150392139T>C, NC_000005.9:g.149771702T>C, NG_011341.1:g.39501T>C, NM_000356.4:c.3249T>C, NM_000356.3:c.3249T>C, NM_001135243.2:c.3480T>C, NM_001135243.1:c.3480T>C, NM_001135244.2:c.3366T>C, NM_001135244.1:c.3366T>C, NM_001195141.2:c.3366T>C, NM_001195141.1:c.3366T>C, NM_001135245.2:c.3249T>C, NM_001135245.1:c.3249T>C, NM_001371623.1:c.3480T>C, XM_005268502.5:c.3591T>C, XM_005268502.4:c.3591T>C, XM_005268502.3:c.3591T>C, XM_005268502.2:c.3591T>C, XM_005268502.1:c.3591T>C, XM_005268504.5:c.3591T>C, XM_005268504.4:c.3591T>C, XM_005268504.3:c.3591T>C, XM_005268504.2:c.3591T>C, XM_005268504.1:c.3591T>C, XM_005268503.5:c.3588T>C, XM_005268503.4:c.3588T>C, XM_005268503.3:c.3588T>C, XM_005268503.2:c.3588T>C, XM_005268503.1:c.3588T>C, XM_005268506.5:c.3477T>C, XM_005268506.4:c.3477T>C, XM_005268506.3:c.3477T>C, XM_005268506.2:c.3477T>C, XM_005268506.1:c.3477T>C, XM_005268507.5:c.3360T>C, XM_005268507.4:c.3360T>C, XM_005268507.3:c.3360T>C, XM_005268507.2:c.3360T>C, XM_005268507.1:c.3360T>C, XM_011537678.4:c.3411T>C, XM_011537678.3:c.3411T>C, XM_011537678.2:c.3411T>C, XM_011537678.1:c.3411T>C, XM_017009792.3:c.3477T>C, XM_017009792.2:c.3477T>C, XM_017009792.1:c.3477T>C, XM_017009793.3:c.3300T>C, XM_017009793.2:c.3300T>C, XM_017009793.1:c.3300T>C, XM_017009794.3:c.3186T>C, XM_017009794.2:c.3186T>C, XM_017009794.1:c.3186T>C, NM_001008656.2:c.3366T>C, XM_047417645.1:c.3588T>C, XM_047417646.1:c.3474T>C, XM_047417647.1:c.3474T>C, XM_047417649.1:c.3411T>C, XM_047417648.1:c.3408T>C, XM_047417650.1:c.3408T>C, NM_001008656.1:c.3366T>C, XM_047417652.1:c.3360T>C, XM_047417651.1:c.3357T>C, XM_047417653.1:c.3357T>C, XM_047417655.1:c.3297T>C, XM_047417654.1:c.3300T>C, XM_047417656.1:c.3297T>C, XM_047417657.1:c.3246T>C, XM_047417659.1:c.3246T>C, XM_047417658.1:c.3243T>C, XM_047417660.1:c.3243T>C, XM_047417661.1:c.3186T>C, XM_047417662.1:c.3180T>C, XM_047417663.1:c.3180T>C, XM_047417664.1:c.3135T>C, XM_047417665.1:c.3135T>C, XM_047417666.1:c.3069T>C, XM_047417667.1:c.3069T>C, XM_047417669.1:c.3066T>C, XM_047417668.1:c.3063T>C, XM_047417670.1:c.2955T>C, XM_047417671.1:c.2955T>C

Select item 14908453197.

rs1490845319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:150395478 (GRCh38)
5:149775041 (GRCh37)
Canonical SPDI:: NC_000005.10:150395477:C:A
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.150395478C>A, NC_000005.9:g.149775041C>A, NG_011341.1:g.42840C>A

Select item 14907013078.

rs1490701307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:150380737 (GRCh38)
5:149760300 (GRCh37)
Canonical SPDI:: NC_000005.10:150380736:G:A,NC_000005.10:150380736:G:C
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.150380737G>A, NC_000005.10:g.150380737G>C, NC_000005.9:g.149760300G>A, NC_000005.9:g.149760300G>C, NG_011341.1:g.28099G>A, NG_011341.1:g.28099G>C

Select item 14906564409.

rs1490656440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:150387081 (GRCh38)
5:149766644 (GRCh37)
Canonical SPDI:: NC_000005.10:150387080:C:G
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.150387081C>G, NC_000005.9:g.149766644C>G, NG_011341.1:g.34443C>G

Select item 149048575910.

rs1490485759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:150365777 (GRCh38)
5:149745340 (GRCh37)
Canonical SPDI:: NC_000005.10:150365776:T:G
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.150365777T>G, NC_000005.9:g.149745340T>G, NG_011341.1:g.13139T>G

Select item 149046695711.

rs1490466957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:150366779 (GRCh38)
5:149746342 (GRCh37)
Canonical SPDI:: NC_000005.10:150366778:C:T
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.150366779C>T, NC_000005.9:g.149746342C>T, NG_011341.1:g.14141C>T

Select item 149041413912.

rs1490414139 has merged into rs1204091560 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:150366649 (GRCh38)
5:149746212 (GRCh37)
Canonical SPDI:: NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:150366639:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTT=0.00463/2 (NorthernSweden)
HGVS:: NC_000005.10:g.150366649_150366665del, NC_000005.10:g.150366651_150366665del, NC_000005.10:g.150366652_150366665del, NC_000005.10:g.150366653_150366665del, NC_000005.10:g.150366654_150366665del, NC_000005.10:g.150366655_150366665del, NC_000005.10:g.150366656_150366665del, NC_000005.10:g.150366658_150366665del, NC_000005.10:g.150366659_150366665del, NC_000005.10:g.150366660_150366665del, NC_000005.10:g.150366663_150366665del, NC_000005.10:g.150366664_150366665del, NC_000005.10:g.150366665del, NC_000005.10:g.150366665dup, NC_000005.10:g.150366664_150366665dup, NC_000005.10:g.150366663_150366665dup, NC_000005.10:g.150366662_150366665dup, NC_000005.10:g.150366661_150366665dup, NC_000005.10:g.150366660_150366665dup, NC_000005.10:g.150366659_150366665dup, NC_000005.10:g.150366657_150366665dup, NC_000005.10:g.150366653_150366665dup, NC_000005.9:g.149746212_149746228del, NC_000005.9:g.149746214_149746228del, NC_000005.9:g.149746215_149746228del, NC_000005.9:g.149746216_149746228del, NC_000005.9:g.149746217_149746228del, NC_000005.9:g.149746218_149746228del, NC_000005.9:g.149746219_149746228del, NC_000005.9:g.149746221_149746228del, NC_000005.9:g.149746222_149746228del, NC_000005.9:g.149746223_149746228del, NC_000005.9:g.149746226_149746228del, NC_000005.9:g.149746227_149746228del, NC_000005.9:g.149746228del, NC_000005.9:g.149746228dup, NC_000005.9:g.149746227_149746228dup, NC_000005.9:g.149746226_149746228dup, NC_000005.9:g.149746225_149746228dup, NC_000005.9:g.149746224_149746228dup, NC_000005.9:g.149746223_149746228dup, NC_000005.9:g.149746222_149746228dup, NC_000005.9:g.149746220_149746228dup, NC_000005.9:g.149746216_149746228dup, NG_011341.1:g.14011_14027del, NG_011341.1:g.14013_14027del, NG_011341.1:g.14014_14027del, NG_011341.1:g.14015_14027del, NG_011341.1:g.14016_14027del, NG_011341.1:g.14017_14027del, NG_011341.1:g.14018_14027del, NG_011341.1:g.14020_14027del, NG_011341.1:g.14021_14027del, NG_011341.1:g.14022_14027del, NG_011341.1:g.14025_14027del, NG_011341.1:g.14026_14027del, NG_011341.1:g.14027del, NG_011341.1:g.14027dup, NG_011341.1:g.14026_14027dup, NG_011341.1:g.14025_14027dup, NG_011341.1:g.14024_14027dup, NG_011341.1:g.14023_14027dup, NG_011341.1:g.14022_14027dup, NG_011341.1:g.14021_14027dup, NG_011341.1:g.14019_14027dup, NG_011341.1:g.14015_14027dup

Select item 149040256413.

rs1490402564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:150372249 (GRCh38)
5:149751812 (GRCh37)
Canonical SPDI:: NC_000005.10:150372248:G:T
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150372249G>T, NC_000005.9:g.149751812G>T, NG_011341.1:g.19611G>T

Select item 149033189214.

rs1490331892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:150386197 (GRCh38)
5:149765760 (GRCh37)
Canonical SPDI:: NC_000005.10:150386196:T:C
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150386197T>C, NC_000005.9:g.149765760T>C, NG_011341.1:g.33559T>C

Select item 149017147415.

rs1490171474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:150363837 (GRCh38)
5:149743400 (GRCh37)
Canonical SPDI:: NC_000005.10:150363836:C:T
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150363837C>T, NC_000005.9:g.149743400C>T, NG_011341.1:g.11199C>T

Select item 149013836916.

rs1490138369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:150379317 (GRCh38)
5:149758880 (GRCh37)
Canonical SPDI:: NC_000005.10:150379316:C:T
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.150379317C>T, NC_000005.9:g.149758880C>T, NG_011341.1:g.26679C>T, NM_000356.4:c.2336C>T, NM_000356.3:c.2336C>T, NM_001008657.3:c.2567C>T, NM_001008657.2:c.2567C>T, NM_001135243.2:c.2567C>T, NM_001135243.1:c.2567C>T, NM_001135244.2:c.2567C>T, NM_001135244.1:c.2567C>T, NM_001195141.2:c.2567C>T, NM_001195141.1:c.2567C>T, NM_001135245.2:c.2336C>T, NM_001135245.1:c.2336C>T, NM_001371623.1:c.2567C>T, XM_005268502.5:c.2567C>T, XM_005268502.4:c.2567C>T, XM_005268502.3:c.2567C>T, XM_005268502.2:c.2567C>T, XM_005268502.1:c.2567C>T, XM_005268504.5:c.2567C>T, XM_005268504.4:c.2567C>T, XM_005268504.3:c.2567C>T, XM_005268504.2:c.2567C>T, XM_005268504.1:c.2567C>T, XM_005268503.5:c.2567C>T, XM_005268503.4:c.2567C>T, XM_005268503.3:c.2567C>T, XM_005268503.2:c.2567C>T, XM_005268503.1:c.2567C>T, XM_005268506.5:c.2567C>T, XM_005268506.4:c.2567C>T, XM_005268506.3:c.2567C>T, XM_005268506.2:c.2567C>T, XM_005268506.1:c.2567C>T, XM_005268507.5:c.2336C>T, XM_005268507.4:c.2336C>T, XM_005268507.3:c.2336C>T, XM_005268507.2:c.2336C>T, XM_005268507.1:c.2336C>T, XM_017009792.3:c.2567C>T, XM_017009792.2:c.2567C>T, XM_017009792.1:c.2567C>T, XM_017009795.3:c.2336C>T, XM_017009795.2:c.2336C>T, XM_017009795.1:c.2336C>T, NM_001008656.2:c.2567C>T, XM_047417645.1:c.2567C>T, XM_047417646.1:c.2567C>T, XM_047417647.1:c.2567C>T, NM_001008656.1:c.2567C>T, XM_047417652.1:c.2336C>T, XM_047417651.1:c.2336C>T, XM_047417653.1:c.2336C>T, XM_047417657.1:c.2336C>T, XM_047417659.1:c.2336C>T, XM_047417658.1:c.2336C>T, XM_047417660.1:c.2336C>T, XM_047417664.1:c.2336C>T, XM_047417665.1:c.2336C>T, XM_047417672.1:c.2567C>T, XM_047417673.1:c.2567C>T, XM_047417674.1:c.2567C>T, XM_047417675.1:c.2336C>T, NP_000347.2:p.Thr779Ile, NP_001008657.1:p.Thr856Ile, NP_001128715.1:p.Thr856Ile, NP_001128716.1:p.Thr856Ile, NP_001182070.1:p.Thr856Ile, NP_001128717.1:p.Thr779Ile, NP_001358552.1:p.Thr856Ile, XP_005268559.1:p.Thr856Ile, XP_005268561.1:p.Thr856Ile, XP_005268560.1:p.Thr856Ile, XP_005268563.1:p.Thr856Ile, XP_005268564.1:p.Thr779Ile, XP_016865281.1:p.Thr856Ile, XP_016865284.1:p.Thr779Ile, XP_047273601.1:p.Thr856Ile, XP_047273602.1:p.Thr856Ile, XP_047273603.1:p.Thr856Ile, XP_047273608.1:p.Thr779Ile, XP_047273607.1:p.Thr779Ile, XP_047273609.1:p.Thr779Ile, XP_047273613.1:p.Thr779Ile, XP_047273615.1:p.Thr779Ile, XP_047273614.1:p.Thr779Ile, XP_047273616.1:p.Thr779Ile, XP_047273620.1:p.Thr779Ile, XP_047273621.1:p.Thr779Ile, XP_047273628.1:p.Thr856Ile, XP_047273629.1:p.Thr856Ile, XP_047273630.1:p.Thr856Ile, XP_047273631.1:p.Thr779Ile

Select item 149011641317.

rs1490116413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:150376537 (GRCh38)
5:149756100 (GRCh37)
Canonical SPDI:: NC_000005.10:150376536:C:A,NC_000005.10:150376536:C:T
Gene:: TCOF1 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150376537C>A, NC_000005.10:g.150376537C>T, NC_000005.9:g.149756100C>A, NC_000005.9:g.149756100C>T, NG_011341.1:g.23899C>A, NG_011341.1:g.23899C>T, NM_000356.4:c.2026C>A, NM_000356.4:c.2026C>T, NM_000356.3:c.2026C>A, NM_000356.3:c.2026C>T, NM_001008657.3:c.2257C>A, NM_001008657.3:c.2257C>T, NM_001008657.2:c.2257C>A, NM_001008657.2:c.2257C>T, NM_001135243.2:c.2257C>A, NM_001135243.2:c.2257C>T, NM_001135243.1:c.2257C>A, NM_001135243.1:c.2257C>T, NM_001135244.2:c.2257C>A, NM_001135244.2:c.2257C>T, NM_001135244.1:c.2257C>A, NM_001135244.1:c.2257C>T, NM_001195141.2:c.2257C>A, NM_001195141.2:c.2257C>T, NM_001195141.1:c.2257C>A, NM_001195141.1:c.2257C>T, NM_001135245.2:c.2026C>A, NM_001135245.2:c.2026C>T, NM_001135245.1:c.2026C>A, NM_001135245.1:c.2026C>T, NM_001371623.1:c.2257C>A, NM_001371623.1:c.2257C>T, XM_005268502.5:c.2257C>A, XM_005268502.5:c.2257C>T, XM_005268502.4:c.2257C>A, XM_005268502.4:c.2257C>T, XM_005268502.3:c.2257C>A, XM_005268502.3:c.2257C>T, XM_005268502.2:c.2257C>A, XM_005268502.2:c.2257C>T, XM_005268502.1:c.2257C>A, XM_005268502.1:c.2257C>T, XM_005268504.5:c.2257C>A, XM_005268504.5:c.2257C>T, XM_005268504.4:c.2257C>A, XM_005268504.4:c.2257C>T, XM_005268504.3:c.2257C>A, XM_005268504.3:c.2257C>T, XM_005268504.2:c.2257C>A, XM_005268504.2:c.2257C>T, XM_005268504.1:c.2257C>A, XM_005268504.1:c.2257C>T, XM_005268503.5:c.2257C>A, XM_005268503.5:c.2257C>T, XM_005268503.4:c.2257C>A, XM_005268503.4:c.2257C>T, XM_005268503.3:c.2257C>A, XM_005268503.3:c.2257C>T, XM_005268503.2:c.2257C>A, XM_005268503.2:c.2257C>T, XM_005268503.1:c.2257C>A, XM_005268503.1:c.2257C>T, XM_005268506.5:c.2257C>A, XM_005268506.5:c.2257C>T, XM_005268506.4:c.2257C>A, XM_005268506.4:c.2257C>T, XM_005268506.3:c.2257C>A, XM_005268506.3:c.2257C>T, XM_005268506.2:c.2257C>A, XM_005268506.2:c.2257C>T, XM_005268506.1:c.2257C>A, XM_005268506.1:c.2257C>T, XM_005268507.5:c.2026C>A, XM_005268507.5:c.2026C>T, XM_005268507.4:c.2026C>A, XM_005268507.4:c.2026C>T, XM_005268507.3:c.2026C>A, XM_005268507.3:c.2026C>T, XM_005268507.2:c.2026C>A, XM_005268507.2:c.2026C>T, XM_005268507.1:c.2026C>A, XM_005268507.1:c.2026C>T, XM_011537678.4:c.2257C>A, XM_011537678.4:c.2257C>T, XM_011537678.3:c.2257C>A, XM_011537678.3:c.2257C>T, XM_011537678.2:c.2257C>A, XM_011537678.2:c.2257C>T, XM_011537678.1:c.2257C>A, XM_011537678.1:c.2257C>T, XM_017009792.3:c.2257C>A, XM_017009792.3:c.2257C>T, XM_017009792.2:c.2257C>A, XM_017009792.2:c.2257C>T, XM_017009792.1:c.2257C>A, XM_017009792.1:c.2257C>T, XM_017009793.3:c.2257C>A, XM_017009793.3:c.2257C>T, XM_017009793.2:c.2257C>A, XM_017009793.2:c.2257C>T, XM_017009793.1:c.2257C>A, XM_017009793.1:c.2257C>T, XM_017009794.3:c.2257C>A, XM_017009794.3:c.2257C>T, XM_017009794.2:c.2257C>A, XM_017009794.2:c.2257C>T, XM_017009794.1:c.2257C>A, XM_017009794.1:c.2257C>T, XM_017009795.3:c.2026C>A, XM_017009795.3:c.2026C>T, XM_017009795.2:c.2026C>A, XM_017009795.2:c.2026C>T, XM_017009795.1:c.2026C>A, XM_017009795.1:c.2026C>T, NM_001008656.2:c.2257C>A, NM_001008656.2:c.2257C>T, XM_047417645.1:c.2257C>A, XM_047417645.1:c.2257C>T, XM_047417646.1:c.2257C>A, XM_047417646.1:c.2257C>T, XM_047417647.1:c.2257C>A, XM_047417647.1:c.2257C>T, XM_047417649.1:c.2257C>A, XM_047417649.1:c.2257C>T, XM_047417648.1:c.2257C>A, XM_047417648.1:c.2257C>T, XM_047417650.1:c.2257C>A, XM_047417650.1:c.2257C>T, NM_001008656.1:c.2257C>A, NM_001008656.1:c.2257C>T, XM_047417652.1:c.2026C>A, XM_047417652.1:c.2026C>T, XM_047417651.1:c.2026C>A, XM_047417651.1:c.2026C>T, XM_047417653.1:c.2026C>A, XM_047417653.1:c.2026C>T, XM_047417655.1:c.2257C>A, XM_047417655.1:c.2257C>T, XM_047417654.1:c.2257C>A, XM_047417654.1:c.2257C>T, XM_047417656.1:c.2257C>A, XM_047417656.1:c.2257C>T, XM_047417657.1:c.2026C>A, XM_047417657.1:c.2026C>T, XM_047417659.1:c.2026C>A, XM_047417659.1:c.2026C>T, XM_047417658.1:c.2026C>A, XM_047417658.1:c.2026C>T, XM_047417660.1:c.2026C>A, XM_047417660.1:c.2026C>T, XM_047417661.1:c.2257C>A, XM_047417661.1:c.2257C>T, XM_047417662.1:c.2026C>A, XM_047417662.1:c.2026C>T, XM_047417663.1:c.2026C>A, XM_047417663.1:c.2026C>T, XM_047417664.1:c.2026C>A, XM_047417664.1:c.2026C>T, XM_047417665.1:c.2026C>A, XM_047417665.1:c.2026C>T, XM_047417666.1:c.2026C>A, XM_047417666.1:c.2026C>T, XM_047417667.1:c.2026C>A, XM_047417667.1:c.2026C>T, XM_047417669.1:c.2026C>A, XM_047417669.1:c.2026C>T, XM_047417668.1:c.2026C>A, XM_047417668.1:c.2026C>T, XM_047417670.1:c.2026C>A, XM_047417670.1:c.2026C>T, XM_047417671.1:c.2026C>A, XM_047417671.1:c.2026C>T, XM_047417676.1:c.2257C>A, XM_047417676.1:c.2257C>T, XM_047417677.1:c.2026C>A, XM_047417677.1:c.2026C>T, XM_047417672.1:c.2257C>A, XM_047417672.1:c.2257C>T, XM_047417673.1:c.2257C>A, XM_047417673.1:c.2257C>T, XM_047417674.1:c.2257C>A, XM_047417674.1:c.2257C>T, XM_047417675.1:c.2026C>A, XM_047417675.1:c.2026C>T, NP_000347.2:p.Gln676Lys, NP_000347.2:p.Gln676Ter, NP_001008657.1:p.Gln753Lys, NP_001008657.1:p.Gln753Ter, NP_001128715.1:p.Gln753Lys, NP_001128715.1:p.Gln753Ter, NP_001128716.1:p.Gln753Lys, NP_001128716.1:p.Gln753Ter, NP_001182070.1:p.Gln753Lys, NP_001182070.1:p.Gln753Ter, NP_001128717.1:p.Gln676Lys, NP_001128717.1:p.Gln676Ter, NP_001358552.1:p.Gln753Lys, NP_001358552.1:p.Gln753Ter, XP_005268559.1:p.Gln753Lys, XP_005268559.1:p.Gln753Ter, XP_005268561.1:p.Gln753Lys, XP_005268561.1:p.Gln753Ter, XP_005268560.1:p.Gln753Lys, XP_005268560.1:p.Gln753Ter, XP_005268563.1:p.Gln753Lys, XP_005268563.1:p.Gln753Ter, XP_005268564.1:p.Gln676Lys, XP_005268564.1:p.Gln676Ter, XP_011535980.1:p.Gln753Lys, XP_011535980.1:p.Gln753Ter, XP_016865281.1:p.Gln753Lys, XP_016865281.1:p.Gln753Ter, XP_016865282.1:p.Gln753Lys, XP_016865282.1:p.Gln753Ter, XP_016865283.1:p.Gln753Lys, XP_016865283.1:p.Gln753Ter, XP_016865284.1:p.Gln676Lys, XP_016865284.1:p.Gln676Ter, XP_047273601.1:p.Gln753Lys, XP_047273601.1:p.Gln753Ter, XP_047273602.1:p.Gln753Lys, XP_047273602.1:p.Gln753Ter, XP_047273603.1:p.Gln753Lys, XP_047273603.1:p.Gln753Ter, XP_047273605.1:p.Gln753Lys, XP_047273605.1:p.Gln753Ter, XP_047273604.1:p.Gln753Lys, XP_047273604.1:p.Gln753Ter, XP_047273606.1:p.Gln753Lys, XP_047273606.1:p.Gln753Ter, XP_047273608.1:p.Gln676Lys, XP_047273608.1:p.Gln676Ter, XP_047273607.1:p.Gln676Lys, XP_047273607.1:p.Gln676Ter, XP_047273609.1:p.Gln676Lys, XP_047273609.1:p.Gln676Ter, XP_047273611.1:p.Gln753Lys, XP_047273611.1:p.Gln753Ter, XP_047273610.1:p.Gln753Lys, XP_047273610.1:p.Gln753Ter, XP_047273612.1:p.Gln753Lys, XP_047273612.1:p.Gln753Ter, XP_047273613.1:p.Gln676Lys, XP_047273613.1:p.Gln676Ter, XP_047273615.1:p.Gln676Lys, XP_047273615.1:p.Gln676Ter, XP_047273614.1:p.Gln676Lys, XP_047273614.1:p.Gln676Ter, XP_047273616.1:p.Gln676Lys, XP_047273616.1:p.Gln676Ter, XP_047273617.1:p.Gln753Lys, XP_047273617.1:p.Gln753Ter, XP_047273618.1:p.Gln676Lys, XP_047273618.1:p.Gln676Ter, XP_047273619.1:p.Gln676Lys, XP_047273619.1:p.Gln676Ter, XP_047273620.1:p.Gln676Lys, XP_047273620.1:p.Gln676Ter, XP_047273621.1:p.Gln676Lys, XP_047273621.1:p.Gln676Ter, XP_047273622.1:p.Gln676Lys, XP_047273622.1:p.Gln676Ter, XP_047273623.1:p.Gln676Lys, XP_047273623.1:p.Gln676Ter, XP_047273625.1:p.Gln676Lys, XP_047273625.1:p.Gln676Ter, XP_047273624.1:p.Gln676Lys, XP_047273624.1:p.Gln676Ter, XP_047273626.1:p.Gln676Lys, XP_047273626.1:p.Gln676Ter, XP_047273627.1:p.Gln676Lys, XP_047273627.1:p.Gln676Ter, XP_047273632.1:p.Gln753Lys, XP_047273632.1:p.Gln753Ter, XP_047273633.1:p.Gln676Lys, XP_047273633.1:p.Gln676Ter, XP_047273628.1:p.Gln753Lys, XP_047273628.1:p.Gln753Ter, XP_047273629.1:p.Gln753Lys, XP_047273629.1:p.Gln753Ter, XP_047273630.1:p.Gln753Lys, XP_047273630.1:p.Gln753Ter, XP_047273631.1:p.Gln676Lys, XP_047273631.1:p.Gln676Ter

Select item 149007096218.

rs1490070962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:150364951 (GRCh38)
5:149744514 (GRCh37)
Canonical SPDI:: NC_000005.10:150364950:C:T
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150364951C>T, NC_000005.9:g.149744514C>T, NG_011341.1:g.12313C>T

Select item 149004293819.

rs1490042938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:150398242 (GRCh38)
5:149777805 (GRCh37)
Canonical SPDI:: NC_000005.10:150398241:C:T
Gene:: TCOF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.150398242C>T, NC_000005.9:g.149777805C>T, NG_011341.1:g.45604C>T

Select item 148990292320.

rs1489902923 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:150357467 (GRCh38)
5:149737030 (GRCh37)
Canonical SPDI:: NC_000005.10:150357462:AGAGAG:AGAG
Gene:: TCOF1 (Varview), LOC105378226 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150357463AG[2], NC_000005.9:g.149737026AG[2], NG_011341.1:g.4825AG[2]

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