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NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp) AND Spastic paraplegia 8

Significance: Pathogenic
ClinVar: RCV000001222

Variant: NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp)

Type: Variant
Allele: NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp) 16202
Gene:
Type: single nucleotide variant
Location: Chr8: 126073434 - assembly GRCh37
Chr8: 125061192 - assembly GRCh38
References: dbSNP: 80338865
OMIM: 610657.0003
UniProtKB: Q12768#VAR_031955

Condition

Disease: Spastic paraplegia 8