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Variant (rsID / SNP)

rs565770950

MYO6

rs565770950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO6. Location: chromosome 6, position 76,542,608. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYO6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:76542608
Cytoband
6q14.1
HGVS
NM_004999.4(MYO6):c.441C>T (p.Ile147=)
Allele change
Synonymous_I147I

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 22|Autosomal recessive nonsyndromic hearing loss 37

Public references

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