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Variant (rsID / SNP)

rs146511800

MYO3A

rs146511800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO3A. Location: chromosome 10, position 26,243,804. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYO3AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:26243804
Cytoband
10p12.1
HGVS
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala)
Allele change
Missense_D57A

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 30|Hearing impairment

Public references

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