Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200818171

MYH14

rs200818171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH14. Location: chromosome 19, position 50,726,342. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MYH14Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:50726342
Cytoband
19q13.33
HGVS
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys)
Allele change
Missense_R189C

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.