Variant (rsID / SNP)

rs192888493

rs192888493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to A2ML1. Location: chromosome 12, position 8,990,963. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

A2ML1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:8990963
Cytoband: 12p13.31
HGVS: NM_144670.6(A2ML1):c.887T>C (p.Val296Ala)
Allele change: Missense_V296A

Associated conditions / phenotypes

Nonsyndromic otitis media

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.