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NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) AND Anemia sideroblastic and spinocerebellar ataxia

Significance: Pathogenic
ClinVar: RCV000012330

Variant: NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)

Type: Variant
Allele: NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) 26613
Gene:
Type: single nucleotide variant
Location: ChrX: 74291351 - assembly GRCh37
ChrX: 75071516 - assembly GRCh38
References: dbSNP: 72554634
OMIM: 300135.0001

Condition

Disease: Anemia sideroblastic and spinocerebellar ataxia

Citation

    In the family with sideroblastic anemia and ataxia (ASAT; 301310) reported by Pagon et al. (1985), Allikmets et al. (1999) identified a missense mutation, ile400 to met, in the ABC7 gene.
PMID:10196363, PMID:4045952