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NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) AND Charcot-Marie-Tooth disease, type 2A2A

Significance: Likely pathogenic
ClinVar: RCV000626228

Variant: NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly)

Type: Variant
Allele: NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) 513488
Gene:
Type: single nucleotide variant
Location: Chr1: 12004858 - assembly GRCh38
Chr1: 12064915 - assembly GRCh37
References: dbSNP: 1266361856

Condition

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