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NM_004299.6(ABCB7):c.1234G>C (p.Val412Leu) AND Anemia sideroblastic and spinocerebellar ataxia

Significance: Pathogenic
ClinVar: RCV000012332

Variant: NM_004299.6(ABCB7):c.1234G>C (p.Val412Leu)

Type: Variant
Allele: NM_004299.6(ABCB7):c.1234G>C (p.Val412Leu) 26615
Gene:
Type: single nucleotide variant
Location: ChrX: 74290334 - assembly GRCh37
ChrX: 75070499 - assembly GRCh38
References: dbSNP: 80356713
OMIM: 300135.0003

Condition

Disease: Anemia sideroblastic and spinocerebellar ataxia