LPL c.645G>A ;(p.G215=)

Variant ID: 8-19811734-G-A

NM_000237.2(LPL):c.645G>A;(p.G215=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

American Journal Of Human Genetics
Basel-Vanagaite, Lina L; Zevit, Noam N; Har Zahav, Adi A; Guo, Liang L; Parathath, Saj S; Pasmanik-Chor, Metsada M; McIntyre, Adam D AD; Wang, Jian J; Albin-Kaplanski, Adi A; Hartman, Corina C; Marom, Daphna D; Zeharia, Avraham A; Badir, Abir A; Shoerman, Oded O; Simon, Amos J AJ; Rechavi, Gideon G; Shohat, Mordechai M; Hegele, Robert A RA; Fisher, Edward A EA; Shamir, Raanan R
Publication Date: 2012-01-13

Variant appearance in text: LPL: 645G>A
PubMed Link: 22226083
Variant Present in the following documents:
  • Main text
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