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Variant (rsID / SNP)

rs121909305

MYO1A

rs121909305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO1A. Location: chromosome 12, position 57,441,459. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYO1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:57441459
Cytoband
12q13.3
HGVS
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
Allele change
Nonsense_R93X

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 48

Public references

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