Bibliome.ai browser hg19
Search
About
Stats
FAQ
TTN c.2683G>A ;(p.G895S)
Variant ID: 2-179648889-C-T
NM_001267550.1(
TTN
):c.2683G>A;(p.G895S)
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:
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
Bmc Medical Genetics
Santos, Susana S; Marques, Vanda V; Pires, Marina M; Silveira, Leonor L; Oliveira, Helena H; Lança, Vasco V; Brito, Dulce D; Madeira, Hugo H; Esteves, J Fonseca JF; Freitas, António A; Carreira, Isabel M IM; Gaspar, Isabel M IM; Monteiro, Carolino C; Fernandes, Alexandra R AR
Publication Date: 2012-03-19
Variant appearance in text: TTN: 2683G>A
PubMed Link:
22429680
Variant Present in the following documents:
Main text
1471-2350-13-17.pdf
View BVdb publication page