Variant (rsID / SNP)

rs34664882

rs34664882 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK1. Location: chromosome 8, position 41,543,675. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ANK1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:41543675
Cytoband: 8p11.21
HGVS: NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val)
Allele change: Missense_A1462V

Associated conditions / phenotypes

Hereditary spherocytosis type 1|Spherocytosis

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.