APC c.1103T>C ;(p.V368A)

Variant ID: 5-112154832-T-C

NM_000038.5(APC):c.1103T>C;(p.V368A)

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:

Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control.

Cellular & Molecular Immunology
Sokolowska, Anna A; Szala, Agnieszka A; St Swierzko, Anna A; Kozinska, Monika M; Niemiec, Tomasz T; Blachnio, Maria M; Augustynowicz-Kopec, Ewa E; Dziadek, Jaroslaw J; Cedzynski, Maciej M
Publication Date: 2015-01

Variant appearance in text: APC: 1103T>C
PubMed Link: 24658431
Variant Present in the following documents:
  • Main text
View BVdb publication page