NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) AND Anemia sideroblastic and spinocerebellar ataxia
| Significance: | Likely pathogenic |
|---|---|
| ClinVar: | RCV000578445 |
Variant: NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) |
|
| Type: | Variant |
Allele: NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) 360664 |
|
| Gene: | ABCB7 |
| Type: | single nucleotide variant |
| Location: |
ChrX: 74290330
- assembly
GRCh37 ChrX: 75070495 - assembly GRCh38 |
| References: | dbSNP:
1057518042 |
Condition |
|
| Disease: | Anemia sideroblastic and spinocerebellar ataxia |