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rs786205451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 9.1 Epidermolysis bullosa (predicted)
(A;G) 3 Carrier of an epidermolysis bullosa mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position209624001
GeneLAMB3, MIR4260
is asnp
is mentioned by
dbSNPrs786205451
dbSNP (classic)rs786205451
ClinGenrs786205451
ebirs786205451
HLIrs786205451
Exacrs786205451
Gnomadrs786205451
Varsomers786205451
LitVarrs786205451
Maprs786205451
PheGenIrs786205451
Biobankrs786205451
1000 genomesrs786205451
hgdprs786205451
ensemblrs786205451
geneviewrs786205451
scholarrs786205451
googlers786205451
pharmgkbrs786205451
gwascentralrs786205451
openSNPrs786205451
23andMers786205451
23andMe allrs786205451
SNPshotrs786205451
SNPdbers786205451
MSV3drs786205451
GWAS Ctlgrs786205451
Max Magnitude9.1

rs786205451, also known as c.1977-1G>A, is a variant in the LAMB3 gene located on chromosome 1.

The rs786205451(A) allele, when inherited recessively, is considered pathogenic in ClinVar for junctional epidermolysis bullosa (JEB).

In 2017, a team of researchers reported the successful regeneration of a young JEB patient's skin using transgenic stem cells. The patient was homozygous for this mutation, i.e. carried the rs786205451(A;A) genotype.10.1038/nature24487

ClinVar
Risk Rs786205451(A;A)
Alt Rs786205451(A;A)
Reference Rs786205451(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene MIR4260 LAMB3
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.209797346C>T
CLNSRC
CLNACC RCV000171166.1,