SNP Links for Protein (Select 4758152) - SNP

Links from Protein

Items: 1 to 20 of 40

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Select item 14437407231.

rs1443740723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:101346511 (GRCh38)
X:100601499 (GRCh37)
Canonical SPDI:: NC_000023.11:101346510:G:A,NC_000023.11:101346510:G:T
Gene:: TIMM8A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.101346511G>A, NC_000023.11:g.101346511G>T, NC_000023.10:g.100601499G>A, NC_000023.10:g.100601499G>T, NG_011734.1:g.7459C>T, NG_011734.1:g.7459C>A, NM_004085.4:c.282C>T, NM_004085.4:c.282C>A, NM_004085.3:c.282C>T, NM_004085.3:c.282C>A, NM_001145951.2:c.*1876C>T, NM_001145951.2:c.*1876C>A, NW_004070883.1:g.28187G>A, NW_004070883.1:g.28187G>T, NP_004076.1:p.Ser94Arg

Select item 14188141412.

rs1418814141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:101348611 (GRCh38)
X:100603599 (GRCh37)
Canonical SPDI:: NC_000023.11:101348610:C:A
Gene:: TIMM8A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101348611C>A, NC_000023.10:g.100603599C>A, NG_009616.1:g.42614G>T, NG_011734.1:g.5359G>T, NM_004085.4:c.54G>T, NM_004085.3:c.54G>T, NM_001145951.2:c.54G>T, NM_001145951.1:c.54G>T, NW_004070883.1:g.30287C>A, NM_032696.1:c.-458G>T, NP_004076.1:p.Gln18His, NP_001139423.1:p.Gln18His

Select item 12671790223.

rs1267179022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:101346631 (GRCh38)
X:100601619 (GRCh37)
Canonical SPDI:: NC_000023.11:101346630:C:T
Gene:: TIMM8A (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.101346631C>T, NC_000023.10:g.100601619C>T, NG_011734.1:g.7339G>A, NM_004085.4:c.162G>A, NM_004085.3:c.162G>A, NM_001145951.2:c.*1756G>A, NW_004070883.1:g.28307C>T

Select item 11575957224.

rs1157595722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101348602 (GRCh38)
X:100603590 (GRCh37)
Canonical SPDI:: NC_000023.11:101348601:A:G
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101348602A>G, NC_000023.10:g.100603590A>G, NG_009616.1:g.42623T>C, NG_011734.1:g.5368T>C, NM_004085.4:c.63T>C, NM_004085.3:c.63T>C, NM_001145951.2:c.63T>C, NM_001145951.1:c.63T>C, NW_004070883.1:g.30278A>G, NM_032696.1:c.-449T>C

Select item 10525718965.

rs1052571896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:101348596 (GRCh38)
X:100603584 (GRCh37)
Canonical SPDI:: NC_000023.11:101348595:G:A,NC_000023.11:101348595:G:C
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.101348596G>A, NC_000023.11:g.101348596G>C, NC_000023.10:g.100603584G>A, NC_000023.10:g.100603584G>C, NG_009616.1:g.42629C>T, NG_009616.1:g.42629C>G, NG_011734.1:g.5374C>T, NG_011734.1:g.5374C>G, NM_004085.4:c.69C>T, NM_004085.4:c.69C>G, NM_004085.3:c.69C>T, NM_004085.3:c.69C>G, NM_001145951.2:c.69C>T, NM_001145951.2:c.69C>G, NM_001145951.1:c.69C>T, NM_001145951.1:c.69C>G, NW_004070883.1:g.30272G>A, NW_004070883.1:g.30272G>C, NM_032696.1:c.-443C>T, NM_032696.1:c.-443C>G, NP_004076.1:p.Ile23Met, NP_001139423.1:p.Ile23Met

Select item 10294233536.

rs1029423353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:101348651 (GRCh38)
X:100603639 (GRCh37)
Canonical SPDI:: NC_000023.11:101348650:G:A,NC_000023.11:101348650:G:C
Gene:: TIMM8A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.101348651G>A, NC_000023.11:g.101348651G>C, NC_000023.10:g.100603639G>A, NC_000023.10:g.100603639G>C, NG_009616.1:g.42574C>T, NG_009616.1:g.42574C>G, NG_011734.1:g.5319C>T, NG_011734.1:g.5319C>G, NM_004085.4:c.14C>T, NM_004085.4:c.14C>G, NM_004085.3:c.14C>T, NM_004085.3:c.14C>G, NM_001145951.2:c.14C>T, NM_001145951.2:c.14C>G, NM_001145951.1:c.14C>T, NM_001145951.1:c.14C>G, NW_004070883.1:g.30327G>A, NW_004070883.1:g.30327G>C, NM_032696.1:c.-498C>T, NM_032696.1:c.-498C>G, NP_004076.1:p.Ser5Phe, NP_004076.1:p.Ser5Cys, NP_001139423.1:p.Ser5Phe, NP_001139423.1:p.Ser5Cys

Select item 8938998027.

rs893899802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101348641 (GRCh38)
X:100603629 (GRCh37)
Canonical SPDI:: NC_000023.11:101348640:G:A
Gene:: TIMM8A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.101348641G>A, NC_000023.10:g.100603629G>A, NG_009616.1:g.42584C>T, NG_011734.1:g.5329C>T, NM_004085.4:c.24C>T, NM_004085.3:c.24C>T, NM_001145951.2:c.24C>T, NM_001145951.1:c.24C>T, NW_004070883.1:g.30317G>A, NM_032696.1:c.-488C>T

Select item 8693207338.

rs869320733 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCAGGCTTG>- [Show Flanks]
Chromosome:: X:101346637 (GRCh38)
X:100601625 (GRCh37)
Canonical SPDI:: NC_000023.11:101346635:GCCCAGGCTTG:G
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
Clinical significance:: pathogenic
HGVS:: NC_000023.11:g.101346637_101346646del, NC_000023.10:g.100601625_100601634del, NG_011734.1:g.7325_7334del, NM_004085.4:c.148_157del, NM_004085.3:c.148_157del, NM_001145951.2:c.*1742_*1751del, NW_004070883.1:g.28313_28322del, NP_004076.1:p.Lys50fs

Select item 8693206679.

rs869320667 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: X:101348538 (GRCh38)
X:100603526 (GRCh37)
Canonical SPDI:: NC_000023.11:101348537:AAA:AA
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
HGVS:: NC_000023.11:g.101348540del, NC_000023.10:g.100603528del, NG_009616.1:g.42687del, NG_011734.1:g.5432del, NM_004085.4:c.127del, NM_004085.3:c.127del, NM_001145951.2:c.127del, NM_001145951.1:c.127del, NW_004070883.1:g.30216del, NM_032696.1:c.-385del, NP_004076.1:p.Cys43fs, NP_001139423.1:p.Cys43fs

Select item 86932066510.

rs869320665 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: X:101348592 (GRCh38)
X:100603580 (GRCh37)
Canonical SPDI:: NC_000023.11:101348591:CC:C
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: pathogenic
HGVS:: NC_000023.11:g.101348593del, NC_000023.10:g.100603581del, NG_009616.1:g.42633del, NG_011734.1:g.5378del, NM_004085.4:c.73del, NM_004085.3:c.73del, NM_001145951.2:c.73del, NM_001145951.1:c.73del, NW_004070883.1:g.30269del, NM_032696.1:c.-439del, NP_004076.1:p.Glu24_Val25insTer, NP_001139423.1:p.Glu24_Val25insTer

Select item 86932066411.

rs869320664 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:101348549 (GRCh38)
X:100603537 (GRCh37)
Canonical SPDI:: NC_000023.11:101348548:A:
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
HGVS:: NC_000023.11:g.101348549del, NC_000023.10:g.100603537del, NG_009616.1:g.42676del, NG_011734.1:g.5421del, NM_004085.4:c.116del, NM_004085.3:c.116del, NM_001145951.2:c.116del, NM_001145951.1:c.116del, NW_004070883.1:g.30225del, NM_032696.1:c.-396del, NP_004076.1:p.Met39fs, NP_001139423.1:p.Met39fs

Select item 86322423412.

rs863224234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101348565 (GRCh38)
X:100603553 (GRCh37)
Canonical SPDI:: NC_000023.11:101348564:G:A
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: likely-pathogenic
Validated:: by cluster
HGVS:: NC_000023.11:g.101348565G>A, NC_000023.10:g.100603553G>A, NG_009616.1:g.42660C>T, NG_011734.1:g.5405C>T, NM_004085.4:c.100C>T, NM_004085.3:c.100C>T, NM_001145951.2:c.100C>T, NM_001145951.1:c.100C>T, NW_004070883.1:g.30241G>A, NM_032696.1:c.-412C>T, NP_004076.1:p.Gln34Ter, NP_001139423.1:p.Gln34Ter

Select item 79704461513.

rs797044615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:101348626 (GRCh38)
X:100603614 (GRCh37)
Canonical SPDI:: NC_000023.11:101348625:A:C
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000023.11:g.101348626A>C, NC_000023.10:g.100603614A>C, NG_009616.1:g.42599T>G, NG_011734.1:g.5344T>G, NM_004085.4:c.39T>G, NM_004085.3:c.39T>G, NM_001145951.2:c.39T>G, NM_001145951.1:c.39T>G, NW_004070883.1:g.30302A>C, NM_032696.1:c.-473T>G

Select item 78269079614.

rs782690796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:101346642 (GRCh38)
X:100601630 (GRCh37)
Canonical SPDI:: NC_000023.11:101346641:G:C
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000005/1 (GnomAD_exomes)
C=0.000011/1 (ExAC)
HGVS:: NC_000023.11:g.101346642G>C, NC_000023.10:g.100601630G>C, NG_011734.1:g.7328C>G, NM_004085.4:c.151C>G, NM_004085.3:c.151C>G, NM_001145951.2:c.*1745C>G, NW_004070883.1:g.28318G>C, NP_004076.1:p.Pro51Ala

Select item 78248498915.

rs782484989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:101346574 (GRCh38)
X:100601562 (GRCh37)
Canonical SPDI:: NC_000023.11:101346573:T:G
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000011/2 (GnomAD_exomes)
G=0.000023/2 (ExAC)
HGVS:: NC_000023.11:g.101346574T>G, NC_000023.10:g.100601562T>G, NG_011734.1:g.7396A>C, NM_004085.4:c.219A>C, NM_004085.3:c.219A>C, NM_001145951.2:c.*1813A>C, NW_004070883.1:g.28250T>G

Select item 78239126716.

rs782391267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:101348589 (GRCh38)
X:100603577 (GRCh37)
Canonical SPDI:: NC_000023.11:101348588:C:G
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
G=0.000011/1 (ExAC)
HGVS:: NC_000023.11:g.101348589C>G, NC_000023.10:g.100603577C>G, NG_009616.1:g.42636G>C, NG_011734.1:g.5381G>C, NM_004085.4:c.76G>C, NM_004085.3:c.76G>C, NM_001145951.2:c.76G>C, NM_001145951.1:c.76G>C, NW_004070883.1:g.30265C>G, NM_032696.1:c.-436G>C, NP_004076.1:p.Glu26Gln, NP_001139423.1:p.Glu26Gln

Select item 78234495117.

rs782344951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101346577 (GRCh38)
X:100601565 (GRCh37)
Canonical SPDI:: NC_000023.11:101346576:A:G
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Clinical significance:: benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000011/1 (ExAC)
G=0.000033/6 (GnomAD_exomes)
G=0.000045/12 (TOPMED)
G=0.000048/5 (GnomAD)
G=0.00027/1 (TWINSUK)
G=0.000346/1 (ALSPAC)
HGVS:: NC_000023.11:g.101346577A>G, NC_000023.10:g.100601565A>G, NG_011734.1:g.7393T>C, NM_004085.4:c.216T>C, NM_004085.3:c.216T>C, NM_001145951.2:c.*1810T>C, NW_004070883.1:g.28253A>G

Select item 78233900118.

rs782339001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:101348560 (GRCh38)
X:100603548 (GRCh37)
Canonical SPDI:: NC_000023.11:101348559:C:T
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
T=0.000011/1 (ExAC)
HGVS:: NC_000023.11:g.101348560C>T, NC_000023.10:g.100603548C>T, NG_009616.1:g.42665G>A, NG_011734.1:g.5410G>A, NM_004085.4:c.105G>A, NM_004085.3:c.105G>A, NM_001145951.2:c.105G>A, NM_001145951.1:c.105G>A, NW_004070883.1:g.30236C>T, NM_032696.1:c.-407G>A

Select item 78231339619.

rs782313396 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101348610 (GRCh38)
X:100603598 (GRCh37)
Canonical SPDI:: NC_000023.11:101348609:A:G
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000011/1 (ExAC)
G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.101348610A>G, NC_000023.10:g.100603598A>G, NG_009616.1:g.42615T>C, NG_011734.1:g.5360T>C, NM_004085.4:c.55T>C, NM_004085.3:c.55T>C, NM_001145951.2:c.55T>C, NM_001145951.1:c.55T>C, NW_004070883.1:g.30286A>G, NM_032696.1:c.-457T>C

Select item 78208421120.

rs782084211 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101348621 (GRCh38)
X:100603609 (GRCh37)
Canonical SPDI:: NC_000023.11:101348620:A:G
Gene:: TIMM8A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
G=0.000011/1 (ExAC)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.101348621A>G, NC_000023.10:g.100603609A>G, NG_009616.1:g.42604T>C, NG_011734.1:g.5349T>C, NM_004085.4:c.44T>C, NM_004085.3:c.44T>C, NM_001145951.2:c.44T>C, NM_001145951.1:c.44T>C, NW_004070883.1:g.30297A>G, NM_032696.1:c.-468T>C, NP_004076.1:p.Val15Ala, NP_001139423.1:p.Val15Ala

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