1:12059112-12059112 G > T

Classification

Category 1
CMH MAF 1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

gene: MFN2 synonym(s): CMT2A, CMT2A2, CPRP1, HSG, MARF, MFN2, ENSG00000116688

OMIM
OMIM:608507: MFN2 (Autosomal dominant inheritance,Autosomal recessive inheritance)
OMIM:609260: Charcot-Marie-Tooth disease, axonal, type 2A2A
OMIM:617087: Charcot-Marie-Tooth disease, axonal, type 2A2B
OMIM:601152: Hereditary motor and sensory neuropathy VIA

NM_014874.3 [CDS]
hgvs_c: NM_014874.3:c.776G>T
reference AA: R
variant AA: L
reference codon: cGc
variant codon: cTc
cDNA pos: 1229
CDS pos: 776
translation impact: non_synonymous
protein sequence: NP_055689.1
AA pos: 259
hgvs_p: NP_055689.1:p.Arg259Leu
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.998)

rs755065651

637279
clinvar_significance = Pathogenic
clinvar_disease = Charcot-Marie-Tooth disease
clinvar_disease = Charcot-Marie-Tooth disease

gnomAD South Asian, (1 / 30616), 0.00327%