HNF4A c.1290C>T ;(p.A430=)

Variant ID: 20-43058236-C-T

NM_175914.4(HNF4A):c.1290C>T;(p.A430=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Characteristics of maturity onset diabetes of the young in a large diabetes center.

Pediatric Diabetes
Chambers, Christina C; Fouts, Alexandra A; Dong, Fran F; Colclough, Kevin K; Wang, Zhenyuan Z; Batish, Sat Dev SD; Jaremko, Malgorzata M; Ellard, Sian S; Hattersley, Andrew T AT; Klingensmith, Georgeanna G; Steck, Andrea K AK
Publication Date: 2016-08

Variant appearance in text: MODY: 1290C>T
PubMed Link: 26059258
Variant Present in the following documents:
  • Main text
  • PEDI-17-360.pdf
View BVdb publication page