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rs121908287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4 homozygote for I41T partial function variant
(C;T) 1 carrier for I41T partial function variant
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome6
Position109715133
GeneFIG4
is asnp
is mentioned by
dbSNPrs121908287
ebirs121908287
HLIrs121908287
Exacrs121908287
Varsomers121908287
Maprs121908287
PheGenIrs121908287
hapmaprs121908287
1000 genomesrs121908287
hgdprs121908287
ensemblrs121908287
gopubmedrs121908287
geneviewrs121908287
scholarrs121908287
googlers121908287
pharmgkbrs121908287
gwascentralrs121908287
openSNPrs121908287
23andMers121908287
23andMe allrs121908287
SNP Nexus

SNPshotrs121908287
SNPdbers121908287
MSV3drs121908287
GWAS Ctlgrs121908287
GMAF0.0009183
Max Magnitude4
rs121908287, also known as I41T, is a SNP in the FIG4 gene that encodes a variation for an amino acid that is normally conserved in many species (from yeast to humans). The common allele is rs121908287(T), encoding the isoleucine at this position; the very rare rs121908287(C) encodes a threonine.

rs121908287(C) apparently gives rise to a partial loss of function that is pathogenic in combination with a null allele of FIG4, leading these compound heterozygotes to Charcot-Marie-Tooth disease, Type 4J (OMIM 611228).[PMID 17572665OA-icon.png]

OMIM609390
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908287(C;C)
Alt rs121908287(C;C)
Reference rs121908287(T;T)
Significance Other
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene FIG4
CLNDBN Charcot-Marie-Tooth disease, type 4J not provided
Reversed 0
HGVS NC_000006.11:g.110036336T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001791.3, RCV000143812.2,