Variant (rsID / SNP)

rs111033448

rs111033448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,867,730. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYO7APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 11:76867730
Cytoband: 11q13.5
HGVS: NM_000260.4(MYO7A):c.496del (p.Glu166fs)

Associated conditions / phenotypes

Rare genetic deafness|Hearing loss, autosomal recessive|Autosomal recessive nonsyndromic hearing loss 2

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.