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Variant (rsID / SNP)

rs121912559

MYO6

rs121912559 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYO6. Location: chromosome 6, position 76,550,395. 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
6:76550395
Cytoband
6q14.1
HGVS
NM_004999.4(MYO6):c.647A>T (p.Glu216Val)
Allele change
Missense_E216V

Associated conditions / phenotypes

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

Public references

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