Variant (rsID / SNP)

rs190256257

rs190256257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK1. Location: chromosome 8, position 41,573,292. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ANK1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:41573292
Cytoband: 8p11.21
HGVS: NM_000037.4(ANK1):c.1480G>A (p.Ala494Thr)
Allele change: Missense_A494T

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.