CDAN1 c.2248G>T ;(p.G750C)

Variant ID: 15-43022340-C-A

NM_138477.2(CDAN1):c.2248G>T;(p.G750C)

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:

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

British Journal Of Haematology
Roy, Noémi B A NBA; Babbs, Christian C
Publication Date: 2019-05

Variant appearance in text: CDA-I: G750C
PubMed Link: 30836435
Variant Present in the following documents:
  • BJH-185-436.pdf
View BVdb publication page