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Variant (rsID / SNP)

rs199897298

MYO7A

rs199897298 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,895,733. 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
11:76895733
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
Allele change
Missense_G1159V

Associated conditions / phenotypes

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

Public references

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