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rs121912839

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
(G;G) 0 common in clinvar


Make rs121912839(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position48572712
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912839
dbSNP (old)rs121912839
ClinGenrs121912839
ebirs121912839
HLIrs121912839
Exacrs121912839
Gnomadrs121912839
Varsomers121912839
Maprs121912839
PheGenIrs121912839
Biobankrs121912839
1000 genomesrs121912839
hgdprs121912839
ensemblrs121912839
gopubmedrs121912839
geneviewrs121912839
scholarrs121912839
googlers121912839
pharmgkbrs121912839
gwascentralrs121912839
openSNPrs121912839
23andMers121912839
23andMe allrs121912839
SNP Nexus

SNPshotrs121912839
SNPdbers121912839
MSV3drs121912839
GWAS Ctlgrs121912839
Max Magnitude3
OMIM120120
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121912839(A;A)
Alt rs121912839(A;A)
Reference Rs121912839(G;G)
Significance Pathogenic
Disease Recessive dystrophic epidermolysis bullosa Nail disorder Generalized dominant dystrophic epidermolysis bullosa not provided
Variation info
Gene COL7A1
CLNDBN Recessive dystrophic epidermolysis bullosa Nail disorder, nonsyndromic congenital, 8 Generalized dominant dystrophic epidermolysis bullosa not provided
Reversed 1
HGVS NC_000003.11:g.48610145C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018998.28, RCV000022473.28, RCV000408804.1, RCV000439658.1,


[PMID 10469344] Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype.