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rs28931610

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a skin fragility/woolly hair syndrome allele
(T;T) 6 carrier of a skin fragility/woolly hair syndrome allele
ReferenceGRCh38 38.1/141
Chromosome6
Position7584358
GeneDSP
is asnp
is mentioned by
dbSNPrs28931610
ebirs28931610
HLIrs28931610
Exacrs28931610
Varsomers28931610
Maprs28931610
PheGenIrs28931610
hapmaprs28931610
1000 genomesrs28931610
hgdprs28931610
ensemblrs28931610
gopubmedrs28931610
geneviewrs28931610
scholarrs28931610
googlers28931610
pharmgkbrs28931610
gwascentralrs28931610
openSNPrs28931610
23andMers28931610
23andMe allrs28931610
SNP Nexus

SNPshotrs28931610
SNPdbers28931610
MSV3drs28931610
GWAS Ctlgrs28931610
Max Magnitude6

rs28931610, also known as R2366C or Arg2366C, is a SNP in the desmoplakin DSP gene on chromosome 6.

The disabling keratoderma known as skin fragility-woolly hair syndrome (SFWHS) can be caused by either inheriting two copies of the [[rs28931610](T) allele or one copy plus another DSP gene mutation on the other chromosomal strand.[PMID 11841538]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

OMIM125647
DescSKIN FRAGILITY-WOOLLY HAIR SYNDROME
Variant0006
Relatedalso


ClinVar
Risk rs28931610(T;T)
Alt rs28931610(T;T)
Reference rs28931610(C;C)
Significance Pathogenic
Disease Skin fragility woolly hair syndrome
Variation info
Gene DSP
CLNDBN Skin fragility woolly hair syndrome
Reversed 0
HGVS NC_000006.11:g.7584591C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018335.28,



[PMID 18974877OA-icon.png] Modifier effects between regulatory and protein-coding variation.