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rs80338756

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs80338756(C;T)
Make rs80338756(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143924012
GenePLEC
is asnp
is mentioned by
dbSNPrs80338756
ebirs80338756
HLIrs80338756
Exacrs80338756
Varsomers80338756
Maprs80338756
PheGenIrs80338756
hapmaprs80338756
1000 genomesrs80338756
hgdprs80338756
ensemblrs80338756
gopubmedrs80338756
geneviewrs80338756
scholarrs80338756
googlers80338756
pharmgkbrs80338756
gwascentralrs80338756
openSNPrs80338756
23andMers80338756
23andMe allrs80338756
SNP Nexus

SNPshotrs80338756
SNPdbers80338756
MSV3drs80338756
GWAS Ctlgrs80338756
Max Magnitude0
OMIM601282
Desc
Variant0005
Relatedalso

[PMID 11851880] A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.


[PMID 15206692] Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.

ClinVar
Risk rs80338756(A,T;A,T)
Alt rs80338756(A,T;A,T)
Reference rs80338756(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa simplex
Variation info
Gene PLEC
CLNDBN Epidermolysis bullosa simplex, Ogna type
Reversed 1
HGVS NC_000008.10:g.144998180G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008751.6,