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TTN c.1373T>G ;(p.V458G)
Variant ID: 2-179659151-A-C
NM_001267550.1(
TTN
):c.1373T>G;(p.V458G)
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 frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.
Blood
Pasquet, Marlène M; Bellanné-Chantelot, Christine C; Tavitian, Suzanne S; Prade, Naïs N; Beaupain, Blandine B; Larochelle, Olivier O; Petit, Arnaud A; Rohrlich, Pierre P; Ferrand, Christophe C; Van Den Neste, Eric E; Poirel, Hélène A HA; Lamy, Thierry T; Ouachée-Chardin, Marie M; Mansat-De Mas, Véronique V; Corre, Jill J; Récher, Christian C; Plat, Geneviève G; Bachelerie, Françoise F; Donadieu, Jean J; Delabesse, Eric E
Publication Date: 2013-01-31
Variant appearance in text: TTN: V458G
PubMed Link:
23223431
Variant Present in the following documents:
Main text
View BVdb publication page