Variant: rs797044871

present in Gene: CAV1 present in Chromosome: 7 Position on Chromosome: 116559228 Alleles of this Variant: TT/-

rs797044871 in CAV1 gene and Lipodystrophy, Congenital Generalized, Type 3 PMID 25898808 2015 Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

rs797044871 in CAV1 gene and PULMONARY HYPERTENSION, PRIMARY, 3 PMID 25898808 2015 Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.