Variant (rsID / SNP)

rs727504567

rs727504567 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO6. Location: chromosome 6, position 76,538,307. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MYO6Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:76538307
Cytoband: 6q14.1
HGVS: NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)
Allele change: Nonsense_R80X

Associated conditions / phenotypes

Nonsyndromic genetic hearing loss|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 22

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.