Variant (rsID / SNP)

rs1340989

rs1340989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB7. Clinical significance in the table: Benign.

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Reference-table entries

ABCB7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq13.3
HGVS: NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val)
Allele change: Missense_A581V

Associated conditions / phenotypes

Sideroblastic Anemia and Ataxia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.