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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