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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:
Type: single nucleotide variant
Location: ChrX: 74290330 - assembly GRCh37
ChrX: 75070495 - assembly GRCh38
References: dbSNP: 1057518042

Condition

Disease: Anemia sideroblastic and spinocerebellar ataxia