ANGPTL4 c.14C>T ;(p.P5L)

Variant ID: 19-8429219-C-T

NM_139314.1(ANGPTL4):c.14C>T;(p.P5L)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.

Plos Genetics
Ionita-Laza, Iuliana I; Capanu, Marinela M; De Rubeis, Silvia S; McCallum, Kenneth K; Buxbaum, Joseph D JD
Publication Date: 2014-12

Variant appearance in text: ANGPTL4: Pro5Leu
PubMed Link: 25502226
Variant Present in the following documents:
  • Main text
  • pgen.1004729.pdf
View BVdb publication page