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EGF c.945G>A ;(p.Q315=)
Variant ID: 4-110880472-G-A
NM_001963.4(
EGF
):c.945G>A;(p.Q315=)
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:
Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.
American Journal Of Medical Genetics. Part A
Zhian, Samaneh S; Belmont, John J; Maslen, Cheryl L CL
Publication Date: 2012-08
Variant appearance in text: EGF: 945G>A
PubMed Link:
22740159
Variant Present in the following documents:
Main text
View BVdb publication page