GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) AND Anemia sideroblastic and spinocerebellar ataxia

Significance: Pathogenic
ClinVar: RCV000114380

Variant: NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp)

Type: Variant
Allele: NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) 131981
Gene:
Type: single nucleotide variant
Location: ChrX: 74295428 - assembly GRCh37
ChrX: 75075593 - assembly GRCh38
References: dbSNP: 515726147

Condition

Disease: Anemia sideroblastic and spinocerebellar ataxia