TTN c.8486A>G ;(p.H2829R)

Variant ID: 2-179634942-T-C

NM_001267550.1(TTN):c.8486A>G;(p.H2829R)

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:

Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.

Human Mutation
Acedo, Alberto A; Hernández-Moro, Cristina C; Curiel-García, Álvaro Á; Díez-Gómez, Beatriz B; Velasco, Eladio A EA
Publication Date: 2015-02

Variant appearance in text: TTN: 8486A>G
PubMed Link: 25382762
Variant Present in the following documents:
  • Main text
  • humu0036-0210.pdf
View BVdb publication page