rs1985

This variant is located in the LPIN2 gene.

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

Majeed syndrome; not provided

About LPIN2

Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]

View all LPIN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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