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TTN c.44998A>G ;(p.I15000V)
Variant ID: 2-179486651-T-C
NM_001267550.1(
TTN
):c.44998A>G;(p.I15000V)
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:
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Peerj
Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A
Publication Date: 2021
Variant appearance in text: TTN: I15000V
PubMed Link:
33552729
Variant Present in the following documents:
peerj-09-10711-s004.xlsx, sheet 1
View BVdb publication page
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06
Variant appearance in text: TTN: 44998A>G; Ile15000Val
PubMed Link:
30847666
Variant Present in the following documents:
12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page