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Variant (rsID / SNP)

rs147749053

MYO3A

rs147749053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO3A. Location: chromosome 10, position 26,491,895. 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
10:26491895
Cytoband
10p12.1
HGVS
NM_017433.5(MYO3A):c.4589A>T (p.Gln1530Leu)
Allele change
Missense_Q1530L

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 30

Public references

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