Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs199474703

MYL3

rs199474703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,902,192. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MYL3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:46902192
Cytoband
3p21.31
HGVS
NM_000258.3(MYL3):c.281G>A (p.Arg94His)
Allele change
Missense_R94H

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 8|Cardiomyopathy|Hypertrophic cardiomyopathy|Primary familial hypertrophic cardiomyopathy

Public references

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