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ACVRL1 c.1189G>A ;(p.D397N)
Variant ID: 12-52309960-G-A
NM_000020.2(
ACVRL1
):c.1189G>A;(p.D397N)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013
Variant appearance in text: ACVRL1: D397N
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Journal Of Medical Genetics
Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M
Publication Date: 2006-09
Variant appearance in text: ACVRL1: D397N
PubMed Link:
16690726
Variant Present in the following documents:
Main text
View BVdb publication page
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02
Variant appearance in text:
PubMed Link:
15879500
Variant Present in the following documents:
Main text
View BVdb publication page