Variant (rsID / SNP)

rs397516739

rs397516739 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMP2. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

LAMP2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Duplication
Cytoband: Xq24
HGVS: NM_002294.3(LAMP2):c.217dup (p.Thr73fs)

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.