Variant (rsID / SNP)

rs61753849

rs61753849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO1A. Location: chromosome 12, position 57,435,225. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYO1AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:57435225
Cytoband: 12q13.3
HGVS: NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp)
Allele change: Missense_E385D

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 48

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.