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Variant (rsID / SNP)

rs149859024

ANK1

rs149859024 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK1. Location: chromosome 8, position 41,529,994. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ANK1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:41529994
Cytoband
8p11.21
HGVS
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=)
Allele change
Synonymous_D1658D

Associated conditions / phenotypes

Hereditary spherocytosis type 1|Spherocytosis

Public references

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