chr22:37973767:G>A Detail (hg38) (POLR2F, SOX10)

Information

Genome

Assembly Position
hg19 chr22:38,369,774-38,369,774 View the variant detail on this assembly version.
hg38 chr22:37,973,767-37,973,767

HGVS

Type Transcript Protein
RefSeq NM_001301130.1:c.293+6597G>A
NM_001301131.1:c.293+6597G>A
Ensemble ENST00000405557.5:c.293+6597G>A
Type Transcript Protein
RefSeq NM_006941.3:c.1129C>T NP_008872.1:p.Gln377Ter
Ensemble ENST00000396884.8:c.1129C>T ENST00000396884.8:p.Gln377Ter
ENST00000698177.1:c.1345C>T ENST00000698177.1:p.Gln449Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 604414 OMIM
HGNC 9193 HGNC
Ensembl ENSG00000100142 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 602229 OMIM
HGNC 11190 HGNC
Ensembl ENSG00000100146 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-03-01 no assertion criteria provided Waardenburg syndrome type 4C germline Detail
Pathogenic 1999-03-01 no assertion criteria provided Waardenburg syndrome type 2E, with neurologic involvement germline Detail
Pathogenic 2019-01-14 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Megacolon, not Hirschsprung's The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated ... BeFree 16921166 Detail
<0.001 megacolon The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated ... BeFree 16921166 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter) AND Waardenburg syndrome type 4C ClinVar Detail
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter) AND Waardenburg syndrome type 2E, with neurologic involve... ClinVar Detail
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter) AND not provided ClinVar Detail
The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T ... DisGeNET Detail
The SOX10 mutations chosen were E189X, Q377X, and 482ins6, which are associated with WS4, and S135T ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs74315520 dbSNP
Genome
hg38
Position
chr22:37,973,767-37,973,767
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser