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rs35312232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs35312232(A;A)
Make rs35312232(A;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position24255457
GeneTGM1
is asnp
is mentioned by
dbSNPrs35312232
ebirs35312232
HLIrs35312232
Exacrs35312232
Varsomers35312232
Maprs35312232
PheGenIrs35312232
hapmaprs35312232
1000 genomesrs35312232
hgdprs35312232
ensemblrs35312232
gopubmedrs35312232
geneviewrs35312232
scholarrs35312232
googlers35312232
pharmgkbrs35312232
gwascentralrs35312232
openSNPrs35312232
23andMers35312232
23andMe allrs35312232
SNP Nexus

SNPshotrs35312232
SNPdbers35312232
MSV3drs35312232
GWAS Ctlgrs35312232
GMAF0.006887
Max Magnitude0
OMIM190195
Desc
Variant0018
Relatedalso


ClinVar
Risk rs35312232(A;A)
Alt rs35312232(A;A)
Reference rs35312232(G;G)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 1
Variation info
Gene TGM1
CLNDBN Autosomal recessive congenital ichthyosis 1
Reversed 1
HGVS NC_000014.8:g.24724663C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013319.26,



GET Evidence
TGM1-V518M
aa_change Val518Met
aa_change_short V518M
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.0113425
summary Probably a non-pathogenic polymorphism. It was initially thought to be involved in autosomal recessive congenital ichthyosis, but later authors found the variant in numerous healthy controls.