APC c.182_203del ;(p.A61Dfs*2)

Variant ID: 5-112102069-GCTTCTTCTGGACAGATTGATTT-G

NM_000038.5(APC):c.182_203del;(p.A61Dfs*2)

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:

Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency.

International Journal Of Molecular Sciences
Motlagh Scholle, Leila L; Lehmann, Diana D; Joshi, Pushpa Raj PR; Zierz, Stephan S
Publication Date: 2019-03-20

Variant appearance in text: APC: 182_203del
PubMed Link: 30897730
Variant Present in the following documents:
  • Main text
View BVdb publication page