HNF4A c.799C>T ;(p.L267F)

Variant ID: 20-43048489-C-T

NM_175914.4(HNF4A):c.799C>T;(p.L267F)

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:

Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants.

International Journal Of Pediatric Endocrinology
Huerta-Saenz, Lina L; Saunders, Carol C; Yan, Yun Y
Publication Date: 2018

Variant appearance in text: HNF4A: 799C>T
PubMed Link: 30026763
Variant Present in the following documents:
  • Main text
  • 13633_2018_Article_60.pdf
View BVdb publication page