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: | ABCB7 |
| Type: | single nucleotide variant |
| Location: |
ChrX: 75071516
- assembly
GRCh38 ChrX: 74291351 - assembly GRCh37 |
| References: | dbSNP:
72554634 OMIM: 300135.0001 |
Condition |
|
| Disease: | Anemia sideroblastic and spinocerebellar ataxia |