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ELN c.1522G>T ;(p.G508C)
Variant ID: 7-73474323-G-T
NM_000501.3(
ELN
):c.1522G>T;(p.G508C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Archives Of Medical Science : Ams
Bonaventura, Jiří J; Norambuena, Patricia P; Tomašov, Pavol P; Jindrová, Denisa D; Šedivá, Hana H; Macek, Milan M; Veselka, Josef J
Publication Date: 2019-05
Variant appearance in text: ELN: Gly508Cys
PubMed Link:
31110529
Variant Present in the following documents:
AMS-15-33903-S1.pdf
View BVdb publication page
Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.
Genomics & Informatics
Yoon, Kyong-Ah KA; Woo, Sang Myung SM; Kim, Yun-Hee YH; Kong, Sun-Young SY; Han, Sung-Sik SS; Park, Sang-Jae SJ; Lee, Woo Jin WJ
Publication Date: 2018-12
Variant appearance in text: ELN: 1522G>T
PubMed Link:
30602096
Variant Present in the following documents:
Main text
gi-2018-16-4-e35.pdf
View BVdb publication page