rs121908287

plus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

109715133

Gene

FIG4

is a	snp
is	mentioned by
dbSNP	rs121908287
dbSNP (classic)	rs121908287
ClinGen	rs121908287
ebi	rs121908287
HLI	rs121908287
Exac	rs121908287
Gnomad	rs121908287
Varsome	rs121908287
LitVar	rs121908287
Map	rs121908287
PheGenI	rs121908287
Biobank	rs121908287
1000 genomes	rs121908287
hgdp	rs121908287
ensembl	rs121908287
geneview	rs121908287
scholar	rs121908287
google	rs121908287
pharmgkb	rs121908287
gwascentral	rs121908287
openSNP	rs121908287
23andMe	rs121908287
SNPshot	rs121908287
SNPdbe	rs121908287
MSV3d	rs121908287
GWAS Ctlg	rs121908287

GMAF

0.0009183

Max Magnitude

4

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 17572665 ]

OMIM	609390
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs121908287(C;C)
Alt	Rs121908287(C;C)
Reference	Rs121908287(T;T)
Significance	Other
Disease	Charcot-Marie-Tooth disease not provided Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease
Variation	info
Gene	FIG4
CLNDBN	Charcot-Marie-Tooth disease, type 4J not provided Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease, type IV
Reversed	0
HGVS	NC_000006.11:g.110036336T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001791.4, RCV000143812.3, RCV000416487.1, RCV000476702.1,