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Variant (rsID / SNP)

rs111033198

MYO7A

rs111033198 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,922,215. 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
11:76922215
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
Allele change
Nonsense_R2024X

Associated conditions / phenotypes

Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|Rare genetic deafness

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.