NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) AND Anemia sideroblastic and spinocerebellar ataxia
Significance: | Likely pathogenic |
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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: 75070495
- assembly
GRCh38 ChrX: 74290330 - assembly GRCh37 |
References: | dbSNP:
1057518042 |
Condition |
|
Disease: | Anemia sideroblastic and spinocerebellar ataxia |