Variant (rsID / SNP)

rs147447646

rs147447646 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH14. Location: chromosome 19, position 50,795,617. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYH14Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:50795617
Cytoband: 19q13.33
HGVS: NM_001145809.2(MYH14):c.5227C>T (p.Leu1743=)
Allele change: Synonymous_L1743L

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.