CDAN1 c.52_54delinsATG ;(p.V18M)

Variant ID: 15-43029247-GAC-CAT

NM_138477.2(CDAN1):c.52_54delinsATG;(p.V18M)

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:

A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I).

The Biochemical Journal
Shroff, Maithili M; Knebel, Axel A; Toth, Rachel R; Rouse, John J
Publication Date: 2020-05-29

Variant appearance in text: CDAN1: V18M
PubMed Link: 32239177
Variant Present in the following documents:
  • BCJ-477-1893.pdf
View BVdb publication page