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NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) AND Charcot-Marie-Tooth disease, type 2A2A

Significance: Pathogenic
ClinVar: RCV000002371

Variant: NM_014874.3(MFN2):c.310C>T (p.Arg104Trp)

Type: Variant
Allele: NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) 17320
Gene:
Type: single nucleotide variant
Location: Chr1: 12052746 - assembly GRCh37
Chr1: 11992689 - assembly GRCh38
References: dbSNP: 119103268
OMIM: 608507.0014

Condition

Disease: Charcot-Marie-Tooth disease, type 2A2A