Variant (rsID / SNP)

rs797044871

rs797044871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV1. Location: chromosome 7, position 116,199,282. Clinical significance in the table: Pathogenic.

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Reference-table entries

CAV1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 7:116199282
Cytoband: 7q31.2
HGVS: NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)

Associated conditions / phenotypes

Inborn genetic diseases|Congenital generalized lipodystrophy type 3|Pulmonary hypertension, primary, 3|Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

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.