Variant (rsID / SNP)

rs119103281

rs119103281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH14. Location: chromosome 19, position 50,713,981. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYH14Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:50713981
Cytoband: 19q13.33
HGVS: NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu)
Allele change: Missense_S120L

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 4A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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