ABCA4 c.36G>C ;(p.W12C)

Variant ID: 1-94586566-C-G

NM_000350.2(ABCA4):c.36G>C;(p.W12C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Unolt, Marta M; Kammoun, Molka M; Nowakowska, Beata B; Graham, Gail E GE; Crowley, T Blaine TB; Hestand, Matthew S MS; Demaerel, Wolfram W; Geremek, Maciej M; Emanuel, Beverly S BS; Zackai, Elaine H EH; Vermeesch, Joris R JR; McDonald-McGinn, Donna D
Publication Date: 2020-02

Variant appearance in text: ABCA4: 36G>C
PubMed Link: 31474763
Variant Present in the following documents:
  • Main text
  • 41436_2019_Article_645.pdf
View BVdb publication page