NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) AND Anemia sideroblastic and spinocerebellar ataxia
| Significance: | Pathogenic |
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| ClinVar: | RCV000012330 |
Variant: NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) |
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| Type: | Variant |
Allele: NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) 26613 |
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| Gene: | ABCB7 |
| Type: | single nucleotide variant |
| Location: |
ChrX: 74291351
- assembly
GRCh37 ChrX: 75071516 - assembly GRCh38 |
| References: | dbSNP:
72554634 OMIM: 300135.0001 |
Condition |
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| Disease: | Anemia sideroblastic and spinocerebellar ataxia |
Citation |
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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 |
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