Variant (rsID / SNP)

rs104894858

rs104894858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMP2. Clinical significance in the table: Pathogenic.

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Reference-table entries

LAMP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq24
HGVS: NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)
Allele change: Missense_V310I

Associated conditions / phenotypes

Danon disease|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.