Variant (rsID / SNP)

rs3745504

rs3745504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH14. Location: chromosome 19, position 50,771,609. Clinical significance in the table: Benign.

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Reference-table entries

MYH14Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:50771609
Cytoband: 19q13.33
HGVS: NM_001145809.2(MYH14):c.3018G>A (p.Leu1006=)
Allele change: Synonymous_L1006L

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 4A|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.