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Variant (rsID / SNP)

rs201337011

MYH14

rs201337011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH14. Location: chromosome 19, position 50,764,739. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH14Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:50764739
Cytoband
19q13.33
HGVS
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)
Allele change
Missense_A811V

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 4A|Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Public references

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