Variant (rsID / SNP)

rs369125667

rs369125667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,853,813. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYO7APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:76853813
Cytoband: 11q13.5
HGVS: NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu)
Allele change: Missense_A26V

Associated conditions / phenotypes

Rare genetic deafness

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.