SNP Links for Protein (Select 51242947) - SNP

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Links from Protein

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Select item 14902067341.

rs1490206734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75666485 (GRCh38)
17:73662565 (GRCh37)
Canonical SPDI:: NC_000017.11:75666484:C:T
Gene:: RECQL5 (Varview), SAP30BP (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75666485C>T, NC_000017.10:g.73662565C>T, NG_029617.1:g.5705G>A, NM_004259.7:c.73G>A, NM_004259.6:c.73G>A, NM_001003716.4:c.73G>A, NM_001003716.3:c.73G>A, NM_001003715.4:c.73G>A, NM_001003715.3:c.73G>A, XM_005257818.5:c.73G>A, XM_005257818.4:c.73G>A, XM_005257818.3:c.73G>A, XM_005257818.2:c.73G>A, XM_005257818.1:c.73G>A, XM_047437085.1:c.73G>A, XM_047437092.1:c.73G>A, XM_047437091.1:c.73G>A, NP_004250.4:p.Gly25Arg, NP_001003716.1:p.Gly25Arg, NP_001003715.1:p.Gly25Arg, XP_005257875.1:p.Gly25Arg, XP_047293041.1:p.Gly25Arg, XP_047293048.1:p.Gly25Arg, XP_047293047.1:p.Gly25Arg

Select item 14858774062.

rs1485877406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:75651265 (GRCh38)
17:73647345 (GRCh37)
Canonical SPDI:: NC_000017.11:75651264:C:G
Gene:: RECQL5 (Varview), LOC107985013 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75651265C>G, NC_000017.10:g.73647345C>G, NG_029617.1:g.20925G>C, NM_004259.7:c.1150G>C, NM_004259.6:c.1150G>C, NM_001003716.4:c.1150G>C, NM_001003716.3:c.1150G>C, NM_001003715.4:c.1150G>C, NM_001003715.3:c.1150G>C, XM_005257818.5:c.1150G>C, XM_005257818.4:c.1150G>C, XM_005257818.3:c.1150G>C, XM_005257818.2:c.1150G>C, XM_005257818.1:c.1150G>C, XM_047437085.1:c.1150G>C, XM_047437092.1:c.1150G>C, XM_047437091.1:c.1150G>C, NP_004250.4:p.Glu384Gln, NP_001003716.1:p.Glu384Gln, NP_001003715.1:p.Glu384Gln, XP_005257875.1:p.Glu384Gln, XP_047293041.1:p.Glu384Gln, XP_047293048.1:p.Glu384Gln, XP_047293047.1:p.Glu384Gln

Select item 14853095553.

rs1485309555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75662888 (GRCh38)
17:73658968 (GRCh37)
Canonical SPDI:: NC_000017.11:75662887:G:A
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.75662888G>A, NC_000017.10:g.73658968G>A, NG_029617.1:g.9302C>T, NM_004259.7:c.362C>T, NM_004259.6:c.362C>T, NM_001003716.4:c.362C>T, NM_001003716.3:c.362C>T, NM_001003715.4:c.362C>T, NM_001003715.3:c.362C>T, XM_005257818.5:c.362C>T, XM_005257818.4:c.362C>T, XM_005257818.3:c.362C>T, XM_005257818.2:c.362C>T, XM_005257818.1:c.362C>T, XM_047437085.1:c.362C>T, XM_047437092.1:c.362C>T, XM_047437091.1:c.362C>T, NP_004250.4:p.Pro121Leu, NP_001003716.1:p.Pro121Leu, NP_001003715.1:p.Pro121Leu, XP_005257875.1:p.Pro121Leu, XP_047293041.1:p.Pro121Leu, XP_047293048.1:p.Pro121Leu, XP_047293047.1:p.Pro121Leu

Select item 14824775934.

rs1482477593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:75651260 (GRCh38)
17:73647340 (GRCh37)
Canonical SPDI:: NC_000017.11:75651259:C:A,NC_000017.11:75651259:C:G
Gene:: RECQL5 (Varview), LOC107985013 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75651260C>A, NC_000017.11:g.75651260C>G, NC_000017.10:g.73647340C>A, NC_000017.10:g.73647340C>G, NG_029617.1:g.20930G>T, NG_029617.1:g.20930G>C, NM_004259.7:c.1155G>T, NM_004259.7:c.1155G>C, NM_004259.6:c.1155G>T, NM_004259.6:c.1155G>C, NM_001003716.4:c.1155G>T, NM_001003716.4:c.1155G>C, NM_001003716.3:c.1155G>T, NM_001003716.3:c.1155G>C, NM_001003715.4:c.1155G>T, NM_001003715.4:c.1155G>C, NM_001003715.3:c.1155G>T, NM_001003715.3:c.1155G>C, XM_005257818.5:c.1155G>T, XM_005257818.5:c.1155G>C, XM_005257818.4:c.1155G>T, XM_005257818.4:c.1155G>C, XM_005257818.3:c.1155G>T, XM_005257818.3:c.1155G>C, XM_005257818.2:c.1155G>T, XM_005257818.2:c.1155G>C, XM_005257818.1:c.1155G>T, XM_005257818.1:c.1155G>C, XM_047437085.1:c.1155G>T, XM_047437085.1:c.1155G>C, XM_047437092.1:c.1155G>T, XM_047437092.1:c.1155G>C, XM_047437091.1:c.1155G>T, XM_047437091.1:c.1155G>C, NP_004250.4:p.Lys385Asn, NP_004250.4:p.Lys385Asn, NP_001003716.1:p.Lys385Asn, NP_001003716.1:p.Lys385Asn, NP_001003715.1:p.Lys385Asn, NP_001003715.1:p.Lys385Asn, XP_005257875.1:p.Lys385Asn, XP_005257875.1:p.Lys385Asn, XP_047293041.1:p.Lys385Asn, XP_047293041.1:p.Lys385Asn, XP_047293048.1:p.Lys385Asn, XP_047293048.1:p.Lys385Asn, XP_047293047.1:p.Lys385Asn, XP_047293047.1:p.Lys385Asn

Select item 14817597375.

rs1481759737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75662853 (GRCh38)
17:73658933 (GRCh37)
Canonical SPDI:: NC_000017.11:75662852:C:T
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75662853C>T, NC_000017.10:g.73658933C>T, NG_029617.1:g.9337G>A, NM_004259.7:c.397G>A, NM_004259.6:c.397G>A, NM_001003716.4:c.397G>A, NM_001003716.3:c.397G>A, NM_001003715.4:c.397G>A, NM_001003715.3:c.397G>A, XM_005257818.5:c.397G>A, XM_005257818.4:c.397G>A, XM_005257818.3:c.397G>A, XM_005257818.2:c.397G>A, XM_005257818.1:c.397G>A, XM_047437085.1:c.397G>A, XM_047437092.1:c.397G>A, XM_047437091.1:c.397G>A, NP_004250.4:p.Ala133Thr, NP_001003716.1:p.Ala133Thr, NP_001003715.1:p.Ala133Thr, XP_005257875.1:p.Ala133Thr, XP_047293041.1:p.Ala133Thr, XP_047293048.1:p.Ala133Thr, XP_047293047.1:p.Ala133Thr

Select item 14808006376.

rs1480800637 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 17:75658459 (GRCh38)
17:73654540 (GRCh37)
Canonical SPDI:: NC_000017.11:75658459::TT
Gene:: RECQL5 (Varview), LOC107985013 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: TT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75658459_75658460insTT, NC_000017.10:g.73654539_73654540insTT, NG_029617.1:g.13730_13731insAA, NM_004259.7:c.987_988insAA, NM_004259.6:c.987_988insAA, NM_001003716.4:c.987_988insAA, NM_001003716.3:c.987_988insAA, NM_001003715.4:c.987_988insAA, NM_001003715.3:c.987_988insAA, XM_005257818.5:c.987_988insAA, XM_005257818.4:c.987_988insAA, XM_005257818.3:c.987_988insAA, XM_005257818.2:c.987_988insAA, XM_005257818.1:c.987_988insAA, XM_047437085.1:c.987_988insAA, XM_047437092.1:c.987_988insAA, XM_047437091.1:c.987_988insAA, XR_001753017.1:n.570_571insTT, NP_004250.4:p.Phe330fs, NP_001003716.1:p.Phe330fs, NP_001003715.1:p.Phe330fs, XP_005257875.1:p.Phe330fs, XP_047293041.1:p.Phe330fs, XP_047293048.1:p.Phe330fs, XP_047293047.1:p.Phe330fs

Select item 14786332017.

rs1478633201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75662650 (GRCh38)
17:73658730 (GRCh37)
Canonical SPDI:: NC_000017.11:75662649:T:C
Gene:: RECQL5 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75662650T>C, NC_000017.10:g.73658730T>C, NG_029617.1:g.9540A>G, NM_004259.7:c.600A>G, NM_004259.6:c.600A>G, NM_001003716.4:c.600A>G, NM_001003716.3:c.600A>G, NM_001003715.4:c.600A>G, NM_001003715.3:c.600A>G, XM_005257818.5:c.600A>G, XM_005257818.4:c.600A>G, XM_005257818.3:c.600A>G, XM_005257818.2:c.600A>G, XM_005257818.1:c.600A>G, XM_047437085.1:c.600A>G, XM_047437092.1:c.600A>G, XM_047437091.1:c.600A>G

Select item 14777705368.

rs1477770536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75658381 (GRCh38)
17:73654461 (GRCh37)
Canonical SPDI:: NC_000017.11:75658380:G:A
Gene:: RECQL5 (Varview), LOC107985013 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75658381G>A, NC_000017.10:g.73654461G>A, NG_029617.1:g.13809C>T, NM_004259.7:c.1066C>T, NM_004259.6:c.1066C>T, NM_001003716.4:c.1066C>T, NM_001003716.3:c.1066C>T, NM_001003715.4:c.1066C>T, NM_001003715.3:c.1066C>T, XM_005257818.5:c.1066C>T, XM_005257818.4:c.1066C>T, XM_005257818.3:c.1066C>T, XM_005257818.2:c.1066C>T, XM_005257818.1:c.1066C>T, XM_047437085.1:c.1066C>T, XM_047437092.1:c.1066C>T, XM_047437091.1:c.1066C>T, XR_001753017.1:n.492G>A, NP_004250.4:p.Pro356Ser, NP_001003716.1:p.Pro356Ser, NP_001003715.1:p.Pro356Ser, XP_005257875.1:p.Pro356Ser, XP_047293041.1:p.Pro356Ser, XP_047293048.1:p.Pro356Ser, XP_047293047.1:p.Pro356Ser

Select item 14739861099.

rs1473986109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:75661031 (GRCh38)
17:73657111 (GRCh37)
Canonical SPDI:: NC_000017.11:75661030:C:A,NC_000017.11:75661030:C:T
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75661031C>A, NC_000017.11:g.75661031C>T, NC_000017.10:g.73657111C>A, NC_000017.10:g.73657111C>T, NG_029617.1:g.11159G>T, NG_029617.1:g.11159G>A, NM_004259.7:c.910G>T, NM_004259.7:c.910G>A, NM_004259.6:c.910G>T, NM_004259.6:c.910G>A, NM_001003716.4:c.910G>T, NM_001003716.4:c.910G>A, NM_001003716.3:c.910G>T, NM_001003716.3:c.910G>A, NM_001003715.4:c.910G>T, NM_001003715.4:c.910G>A, NM_001003715.3:c.910G>T, NM_001003715.3:c.910G>A, XM_005257818.5:c.910G>T, XM_005257818.5:c.910G>A, XM_005257818.4:c.910G>T, XM_005257818.4:c.910G>A, XM_005257818.3:c.910G>T, XM_005257818.3:c.910G>A, XM_005257818.2:c.910G>T, XM_005257818.2:c.910G>A, XM_005257818.1:c.910G>T, XM_005257818.1:c.910G>A, XM_047437085.1:c.910G>T, XM_047437085.1:c.910G>A, XM_047437092.1:c.910G>T, XM_047437092.1:c.910G>A, XM_047437091.1:c.910G>T, XM_047437091.1:c.910G>A, NP_004250.4:p.Asp304Tyr, NP_004250.4:p.Asp304Asn, NP_001003716.1:p.Asp304Tyr, NP_001003716.1:p.Asp304Asn, NP_001003715.1:p.Asp304Tyr, NP_001003715.1:p.Asp304Asn, XP_005257875.1:p.Asp304Tyr, XP_005257875.1:p.Asp304Asn, XP_047293041.1:p.Asp304Tyr, XP_047293041.1:p.Asp304Asn, XP_047293048.1:p.Asp304Tyr, XP_047293048.1:p.Asp304Asn, XP_047293047.1:p.Asp304Tyr, XP_047293047.1:p.Asp304Asn

Select item 147224585010.

rs1472245850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75661049 (GRCh38)
17:73657129 (GRCh37)
Canonical SPDI:: NC_000017.11:75661048:T:C
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75661049T>C, NC_000017.10:g.73657129T>C, NG_029617.1:g.11141A>G, NM_004259.7:c.892A>G, NM_004259.6:c.892A>G, NM_001003716.4:c.892A>G, NM_001003716.3:c.892A>G, NM_001003715.4:c.892A>G, NM_001003715.3:c.892A>G, XM_005257818.5:c.892A>G, XM_005257818.4:c.892A>G, XM_005257818.3:c.892A>G, XM_005257818.2:c.892A>G, XM_005257818.1:c.892A>G, XM_047437085.1:c.892A>G, XM_047437092.1:c.892A>G, XM_047437091.1:c.892A>G, NP_004250.4:p.Arg298Gly, NP_001003716.1:p.Arg298Gly, NP_001003715.1:p.Arg298Gly, XP_005257875.1:p.Arg298Gly, XP_047293041.1:p.Arg298Gly, XP_047293048.1:p.Arg298Gly, XP_047293047.1:p.Arg298Gly

Select item 147039917911.

rs1470399179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75662631 (GRCh38)
17:73658711 (GRCh37)
Canonical SPDI:: NC_000017.11:75662630:G:A
Gene:: RECQL5 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75662631G>A, NC_000017.10:g.73658711G>A, NG_029617.1:g.9559C>T, NM_004259.7:c.619C>T, NM_004259.6:c.619C>T, NM_001003716.4:c.619C>T, NM_001003716.3:c.619C>T, NM_001003715.4:c.619C>T, NM_001003715.3:c.619C>T, XM_005257818.5:c.619C>T, XM_005257818.4:c.619C>T, XM_005257818.3:c.619C>T, XM_005257818.2:c.619C>T, XM_005257818.1:c.619C>T, XM_047437085.1:c.619C>T, XM_047437092.1:c.619C>T, XM_047437091.1:c.619C>T

Select item 146970006812.

rs1469700068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:75662885 (GRCh38)
17:73658965 (GRCh37)
Canonical SPDI:: NC_000017.11:75662884:T:A
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75662885T>A, NC_000017.10:g.73658965T>A, NG_029617.1:g.9305A>T, NM_004259.7:c.365A>T, NM_004259.6:c.365A>T, NM_001003716.4:c.365A>T, NM_001003716.3:c.365A>T, NM_001003715.4:c.365A>T, NM_001003715.3:c.365A>T, XM_005257818.5:c.365A>T, XM_005257818.4:c.365A>T, XM_005257818.3:c.365A>T, XM_005257818.2:c.365A>T, XM_005257818.1:c.365A>T, XM_047437085.1:c.365A>T, XM_047437092.1:c.365A>T, XM_047437091.1:c.365A>T, NP_004250.4:p.Gln122Leu, NP_001003716.1:p.Gln122Leu, NP_001003715.1:p.Gln122Leu, XP_005257875.1:p.Gln122Leu, XP_047293041.1:p.Gln122Leu, XP_047293048.1:p.Gln122Leu, XP_047293047.1:p.Gln122Leu

Select item 146321516813.

rs1463215168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75662898 (GRCh38)
17:73658978 (GRCh37)
Canonical SPDI:: NC_000017.11:75662897:G:A
Gene:: RECQL5 (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.75662898G>A, NC_000017.10:g.73658978G>A, NG_029617.1:g.9292C>T, NM_004259.7:c.352C>T, NM_004259.6:c.352C>T, NM_001003716.4:c.352C>T, NM_001003716.3:c.352C>T, NM_001003715.4:c.352C>T, NM_001003715.3:c.352C>T, XM_005257818.5:c.352C>T, XM_005257818.4:c.352C>T, XM_005257818.3:c.352C>T, XM_005257818.2:c.352C>T, XM_005257818.1:c.352C>T, XM_047437085.1:c.352C>T, XM_047437092.1:c.352C>T, XM_047437091.1:c.352C>T, NP_004250.4:p.Arg118Ter, NP_001003716.1:p.Arg118Ter, NP_001003715.1:p.Arg118Ter, XP_005257875.1:p.Arg118Ter, XP_047293041.1:p.Arg118Ter, XP_047293048.1:p.Arg118Ter, XP_047293047.1:p.Arg118Ter

Select item 146247704114.

rs1462477041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75662530 (GRCh38)
17:73658610 (GRCh37)
Canonical SPDI:: NC_000017.11:75662529:C:T
Gene:: RECQL5 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.75662530C>T, NC_000017.10:g.73658610C>T, NG_029617.1:g.9660G>A, NM_004259.7:c.720G>A, NM_004259.6:c.720G>A, NM_001003716.4:c.720G>A, NM_001003716.3:c.720G>A, NM_001003715.4:c.720G>A, NM_001003715.3:c.720G>A, XM_005257818.5:c.720G>A, XM_005257818.4:c.720G>A, XM_005257818.3:c.720G>A, XM_005257818.2:c.720G>A, XM_005257818.1:c.720G>A, XM_047437085.1:c.720G>A, XM_047437092.1:c.720G>A, XM_047437091.1:c.720G>A

Select item 145804624015.

rs1458046240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:75665109 (GRCh38)
17:73661189 (GRCh37)
Canonical SPDI:: NC_000017.11:75665108:G:C
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75665109G>C, NC_000017.10:g.73661189G>C, NG_029617.1:g.7081C>G, NM_004259.7:c.194C>G, NM_004259.6:c.194C>G, NM_001003716.4:c.194C>G, NM_001003716.3:c.194C>G, NM_001003715.4:c.194C>G, NM_001003715.3:c.194C>G, XM_005257818.5:c.194C>G, XM_005257818.4:c.194C>G, XM_005257818.3:c.194C>G, XM_005257818.2:c.194C>G, XM_005257818.1:c.194C>G, XM_047437085.1:c.194C>G, XM_047437092.1:c.194C>G, XM_047437091.1:c.194C>G, NP_004250.4:p.Pro65Arg, NP_001003716.1:p.Pro65Arg, NP_001003715.1:p.Pro65Arg, XP_005257875.1:p.Pro65Arg, XP_047293041.1:p.Pro65Arg, XP_047293048.1:p.Pro65Arg, XP_047293047.1:p.Pro65Arg

Select item 145380191316.

rs1453801913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75662569 (GRCh38)
17:73658649 (GRCh37)
Canonical SPDI:: NC_000017.11:75662568:A:G
Gene:: RECQL5 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75662569A>G, NC_000017.10:g.73658649A>G, NG_029617.1:g.9621T>C, NM_004259.7:c.681T>C, NM_004259.6:c.681T>C, NM_001003716.4:c.681T>C, NM_001003716.3:c.681T>C, NM_001003715.4:c.681T>C, NM_001003715.3:c.681T>C, XM_005257818.5:c.681T>C, XM_005257818.4:c.681T>C, XM_005257818.3:c.681T>C, XM_005257818.2:c.681T>C, XM_005257818.1:c.681T>C, XM_047437085.1:c.681T>C, XM_047437092.1:c.681T>C, XM_047437091.1:c.681T>C

Select item 145359715517.

rs1453597155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:75658332 (GRCh38)
17:73654412 (GRCh37)
Canonical SPDI:: NC_000017.11:75658331:C:A
Gene:: RECQL5 (Varview), LOC107985013 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75658332C>A, NC_000017.10:g.73654412C>A, NG_029617.1:g.13858G>T, NM_004259.7:c.1115G>T, NM_004259.6:c.1115G>T, NM_001003716.4:c.1115G>T, NM_001003716.3:c.1115G>T, NM_001003715.4:c.1115G>T, NM_001003715.3:c.1115G>T, XM_005257818.5:c.1115G>T, XM_005257818.4:c.1115G>T, XM_005257818.3:c.1115G>T, XM_005257818.2:c.1115G>T, XM_005257818.1:c.1115G>T, XM_047437085.1:c.1115G>T, XM_047437092.1:c.1115G>T, XM_047437091.1:c.1115G>T, XR_001753017.1:n.443C>A, NP_004250.4:p.Ser372Ile, NP_001003716.1:p.Ser372Ile, NP_001003715.1:p.Ser372Ile, XP_005257875.1:p.Ser372Ile, XP_047293041.1:p.Ser372Ile, XP_047293048.1:p.Ser372Ile, XP_047293047.1:p.Ser372Ile

Select item 145298029418.

rs1452980294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:75662979 (GRCh38)
17:73659059 (GRCh37)
Canonical SPDI:: NC_000017.11:75662978:G:C,NC_000017.11:75662978:G:T
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75662979G>C, NC_000017.11:g.75662979G>T, NC_000017.10:g.73659059G>C, NC_000017.10:g.73659059G>T, NG_029617.1:g.9211C>G, NG_029617.1:g.9211C>A, NM_004259.7:c.271C>G, NM_004259.7:c.271C>A, NM_004259.6:c.271C>G, NM_004259.6:c.271C>A, NM_001003716.4:c.271C>G, NM_001003716.4:c.271C>A, NM_001003716.3:c.271C>G, NM_001003716.3:c.271C>A, NM_001003715.4:c.271C>G, NM_001003715.4:c.271C>A, NM_001003715.3:c.271C>G, NM_001003715.3:c.271C>A, XM_005257818.5:c.271C>G, XM_005257818.5:c.271C>A, XM_005257818.4:c.271C>G, XM_005257818.4:c.271C>A, XM_005257818.3:c.271C>G, XM_005257818.3:c.271C>A, XM_005257818.2:c.271C>G, XM_005257818.2:c.271C>A, XM_005257818.1:c.271C>G, XM_005257818.1:c.271C>A, XM_047437085.1:c.271C>G, XM_047437085.1:c.271C>A, XM_047437092.1:c.271C>G, XM_047437092.1:c.271C>A, XM_047437091.1:c.271C>G, XM_047437091.1:c.271C>A, NP_004250.4:p.Leu91Val, NP_004250.4:p.Leu91Ile, NP_001003716.1:p.Leu91Val, NP_001003716.1:p.Leu91Ile, NP_001003715.1:p.Leu91Val, NP_001003715.1:p.Leu91Ile, XP_005257875.1:p.Leu91Val, XP_005257875.1:p.Leu91Ile, XP_047293041.1:p.Leu91Val, XP_047293041.1:p.Leu91Ile, XP_047293048.1:p.Leu91Val, XP_047293048.1:p.Leu91Ile, XP_047293047.1:p.Leu91Val, XP_047293047.1:p.Leu91Ile

Select item 145135131119.

rs1451351311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75662667 (GRCh38)
17:73658747 (GRCh37)
Canonical SPDI:: NC_000017.11:75662666:C:T
Gene:: RECQL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75662667C>T, NC_000017.10:g.73658747C>T, NG_029617.1:g.9523G>A, NM_004259.7:c.583G>A, NM_004259.6:c.583G>A, NM_001003716.4:c.583G>A, NM_001003716.3:c.583G>A, NM_001003715.4:c.583G>A, NM_001003715.3:c.583G>A, XM_005257818.5:c.583G>A, XM_005257818.4:c.583G>A, XM_005257818.3:c.583G>A, XM_005257818.2:c.583G>A, XM_005257818.1:c.583G>A, XM_047437085.1:c.583G>A, XM_047437092.1:c.583G>A, XM_047437091.1:c.583G>A, NP_004250.4:p.Ala195Thr, NP_001003716.1:p.Ala195Thr, NP_001003715.1:p.Ala195Thr, XP_005257875.1:p.Ala195Thr, XP_047293041.1:p.Ala195Thr, XP_047293048.1:p.Ala195Thr, XP_047293047.1:p.Ala195Thr

Select item 145116857920.

rs1451168579 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:75650641 (GRCh38)
17:73646722 (GRCh37)
Canonical SPDI:: NC_000017.11:75650641:A:AA
Gene:: RECQL5 (Varview), LOC107985013 (Varview)
Functional Consequence:: non_coding_transcript_variant,terminator_codon_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant,stop_lost,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75650642dup, NC_000017.10:g.73646722dup, NG_029617.1:g.21548dup, NM_001003716.4:c.*540dup, NM_001003716.3:c.*540dup, NM_001003715.4:c.1306dup, NM_001003715.3:c.1306dup, XM_047437092.1:c.1306dup, XR_001753017.1:n.7dup, NP_001003715.1:p.Ter436LeuextTer?, XP_047293048.1:p.Ter436LeuextTer?

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