APAF1 c.3100T>A ;(p.L1034M)

Variant ID: 12-99116986-T-A

NM_181861.1(APAF1):c.3100T>A;(p.L1034M)

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:

Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.

Frontiers In Genetics
Jiang, Peng P; Hu, Yaofei Y; Wang, Yiqi Y; Zhang, Jin J; Zhu, Qinghong Q; Bai, Lin L; Tong, Qiang Q; Li, Tao T; Zhao, Liang L
Publication Date: 2019

Variant appearance in text: APAF1: L1034M
PubMed Link: 31440271
Variant Present in the following documents:
  • Table_1.xlsx, sheet 5
View BVdb publication page