Variant (rsID / SNP)

rs199474705

rs199474705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,900,992. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYL3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:46900992
Cytoband: 3p21.31
HGVS: NM_000258.3(MYL3):c.454G>A (p.Glu152Lys)
Allele change: Missense_E152K

Associated conditions / phenotypes

Hypertrophic cardiomyopathy

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.