chr22:38379388:C>G Detail (hg19) (POLR2F, SOX10)

Information

Genome

Assembly Position
hg19 chr22:38,379,388-38,379,388
hg38 chr22:37,983,381-37,983,381 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001301130.1:c.294-2773C>G
NM_001301131.1:c.294-2773C>G
Ensemble ENST00000405557.5:c.293+16211C>G
Type Transcript Protein
RefSeq NM_006941.3:c.404G>C NP_008872.1:p.Ser135Thr
Ensemble ENST00000360880.6:c.404G>C ENST00000360880.6:p.Ser135Thr
ENST00000396884.8:c.404G>C ENST00000396884.8:p.Ser135Thr
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-09-01 no assertion criteria provided Waardenburg syndrome type 2E, without neurologic involvement 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.404G>C (p.Ser135Thr) AND Waardenburg syndrome type 2E, without neurologic invol... 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
rs74315515 dbSNP
Genome
hg19
Position
chr22:38,379,388-38,379,388
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser