Variant (rsID / SNP)

rs371405579

rs371405579 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL2. Location: chromosome 12, position 111,351,981. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYL2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:111351981
Cytoband: 12q24.11
HGVS: NM_000432.4(MYL2):c.274+9G>A
Allele change: Silent

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 10

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.