CDAN1 c.154T>C ;(p.F52L)

Variant ID: 15-43028915-A-G

NM_138477.2(CDAN1):c.154T>C;(p.F52L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.

British Journal Of Haematology
Roy, Noémi B A NB; Wilson, Edward A EA; Henderson, Shirley S; Wray, Katherine K; Babbs, Christian C; Okoli, Steven S; Atoyebi, Wale W; Mixon, Avery A; Cahill, Mary R MR; Carey, Peter P; Cullis, Jonathan J; Curtin, Julie J; Dreau, Helene H; Ferguson, David J P DJ; Gibson, Brenda B; Hall, Georgina G; Mason, Joanne J; Morgan, Mary M; Proven, Melanie M; Qureshi, Amrana A; Sanchez Garcia, Joaquin J; Sirachainan, Nongnuch N; Teo, Juliana J; Tedgård, Ulf U; Higgs, Doug D; Roberts, David D; Roberts, Irene I; Schuh, Anna A
Publication Date: 2016-10

Variant appearance in text: CDAN1: Phe52Leu
PubMed Link: 27432187
Variant Present in the following documents:
  • Main text
  • BJH-175-318.pdf
View BVdb publication page