Variant (rsID / SNP)

rs138991195

rs138991195 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.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

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.586A>T (p.Thr196Ser)
Allele change: Missense_T196S

Associated conditions / phenotypes

Cardiovascular phenotype|History of neurodevelopmental disorder|Hypertrophic cardiomyopathy|Danon disease|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.