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Variant (rsID / SNP)

rs111033181

MYO7A

rs111033181 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,867,068. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MYO7ALikely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:76867068
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
Allele change
Missense_I134N

Associated conditions / phenotypes

Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 2|Usher syndrome type 1|Retinal dystrophy|MYO7A-Related Disorders|Usher syndrome

Public references

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