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Variant (rsID / SNP)

rs369458838

MYO7A

rs369458838 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,901,818. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYO7AUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:76901818
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)
Allele change
Missense_S1276L

Associated conditions / phenotypes

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

Public references

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