Variant (rsID / SNP)

rs141541387

rs141541387 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMP2. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LAMP2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq24
HGVS: NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
Allele change: Missense_I252S

Associated conditions / phenotypes

Cardiovascular phenotype|Danon disease|History of neurodevelopmental disorder

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.