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Variant (rsID / SNP)

rs142293185

MYO7A

rs142293185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO7A. Location: chromosome 11, position 76,919,484. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYO7AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:76919484
Cytoband
11q13.5
HGVS
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
Allele change
Missense_V1956I

Associated conditions / phenotypes

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