CDAN1 c.1003C>T ;(p.R335W)

Variant ID: 15-43027513-G-A

NM_138477.2(CDAN1):c.1003C>T;(p.R335W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report.

World Journal Of Hepatology
Jaramillo, Catalina C; Ermarth, Anna K AK; Putnam, Angelica R AR; Deneau, Mark M
Publication Date: 2019-05-27

Variant appearance in text: CDAN1: 1003C>T; Arg335Trp
PubMed Link: 31183007
Variant Present in the following documents:
  • Main text
  • WJH-11-477.pdf
View BVdb publication page



Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.

Blood Cells, Molecules & Diseases
Meznarich, Jessica A JA; Draper, Lauren L; Christensen, Robert D RD; Yaish, Hassan M HM; Luem, Nick D ND; Pysher, Theodore J TJ; Jung, Grace G; Nemeth, Elizabeta E; Ganz, Tomas T; Ward, Diane M DM
Publication Date: 2018-07

Variant appearance in text: CDAN1: 1003C>T; Arg335Trp
PubMed Link: 29599085
Variant Present in the following documents:
  • Main text
View BVdb publication page