Variant (rsID / SNP)

rs368367224

rs368367224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTN2. Location: chromosome 1, position 236,849,991. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ACTN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:236849991
Cytoband: 1q43
HGVS: NM_001103.4(ACTN2):c.18C>T (p.Pro6=)
Allele change: Synonymous_P6P

Associated conditions / phenotypes

Dilated cardiomyopathy 1AA|Primary familial 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.