Variant (rsID / SNP)

rs201030806

rs201030806 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMP2. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LAMP2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq24
HGVS: NM_002294.3(LAMP2):c.591G>A (p.Val197=)
Allele change: Synonymous_V197V

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Danon disease|Cardiovascular phenotype

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.