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Variant (rsID / SNP)

rs948962

MYO7A

rs948962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,919,478. Clinical significance in the table: Benign.

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Reference-table entries

MYO7ABenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
11:76919478
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)
Allele change
Missense_L1954I

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 11|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 2|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.