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Variant (rsID / SNP)

rs111033182

MYO7A

rs111033182 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,913,402. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYO7APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:76913402
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)
Allele change
Nonsense_R1701X

Associated conditions / phenotypes

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

Public references

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