Variant (rsID / SNP)

rs3740232

rs3740232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO3A. Location: chromosome 10, position 26,462,790. Clinical significance in the table: Benign.

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Reference-table entries

MYO3ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:26462790
Cytoband: 10p12.1
HGVS: NM_017433.5(MYO3A):c.3597G>A (p.Glu1199=)
Allele change: Synonymous_E1199E

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.