Variant (rsID / SNP)

rs113993956

rs113993956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH14. Location: chromosome 19, position 50,771,512. 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: 19:50771512
Cytoband: 19q13.33
HGVS: NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)
Allele change: Missense_R974L

Associated conditions / phenotypes

Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

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.