Variant (rsID / SNP)

rs147376000

rs147376000 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO3A. Location: chromosome 10, position 26,482,160. 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: 10:26482160
Cytoband: 10p12.1
HGVS: NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val)
Allele change: Missense_I1489V

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 30

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.