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Variant (rsID / SNP)

rs119103280

MYH14

rs119103280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH14. Location: chromosome 19, position 50,747,534. 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
19:50747534
Cytoband
19q13.33
HGVS
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
Allele change
Missense_G384C

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 4A

Public references

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