Variant (rsID / SNP)

rs193922649

rs193922649 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMP2. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LAMP2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Cytoband: Xq24
HGVS: NM_002294.3(LAMP2):c.463del (p.Ser155fs)

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Danon disease

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.