rs119103263

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs119103263(C;T)

Make rs119103263(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11992659

Gene

MFN2

is a	snp
is	mentioned by
dbSNP	rs119103263
dbSNP (classic)	rs119103263
ClinGen	rs119103263
ebi	rs119103263
HLI	rs119103263
Exac	rs119103263
Gnomad	rs119103263
Varsome	rs119103263
LitVar	rs119103263
Map	rs119103263
PheGenI	rs119103263
Biobank	rs119103263
1000 genomes	rs119103263
hgdp	rs119103263
ensembl	rs119103263
geneview	rs119103263
scholar	rs119103263
google	rs119103263
pharmgkb	rs119103263
gwascentral	rs119103263
openSNP	rs119103263
23andMe	rs119103263
SNPshot	rs119103263
SNPdbe	rs119103263
MSV3d	rs119103263
GWAS Ctlg	rs119103263

Max Magnitude

0

OMIM	608507
Desc
Variant	0009
Related	also

ClinVar
Risk	rs119103263(T;T)
Alt	rs119103263(T;T)
Reference	Rs119103263(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease not provided Abnormal blistering of the skin Abnormality of dental enamel Abnormality of the teeth Alopecia of scalp Decreased body weight Distal muscle weakness EMG abnormality Failure to thrive Hyperpigmentation of the skin Microcephaly Nail dystrophy Scarring Scarring alopecia of scalp Short stature
Variation	info
Gene	MFN2
CLNDBN	Charcot-Marie-Tooth disease, type 2A2 Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease, type 2 not provided Abnormal blistering of the skin Abnormality of dental enamel Abnormality of the teeth Alopecia of scalp Decreased body weight Distal muscle weakness EMG abnormality Failure to thrive Hyperpigmentation of the skin Microcephaly Nail dystrophy Scarring Scarring alopecia of scalp Short stature
Reversed	0
HGVS	NC_000001.10:g.12052716C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002364.7, RCV000190245.3, RCV000199279.1, RCV000200468.4, RCV000415132.1,