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