rs28931610

plus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

7584358

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs28931610
dbSNP (classic)	rs28931610
ClinGen	rs28931610
ebi	rs28931610
HLI	rs28931610
Exac	rs28931610
Gnomad	rs28931610
Varsome	rs28931610
LitVar	rs28931610
Map	rs28931610
PheGenI	rs28931610
Biobank	rs28931610
1000 genomes	rs28931610
hgdp	rs28931610
ensembl	rs28931610
geneview	rs28931610
scholar	rs28931610
google	rs28931610
pharmgkb	rs28931610
gwascentral	rs28931610
openSNP	rs28931610
23andMe	rs28931610
SNPshot	rs28931610
SNPdbe	rs28931610
MSV3d	rs28931610
GWAS Ctlg	rs28931610

Max Magnitude

6

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 23788249 ]

OMIM	125647
Desc	SKIN FRAGILITY-WOOLLY HAIR SYNDROME
Variant	0006
Related	also

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 UniProtKB (protein)
CLNACC	RCV000018335.29,

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