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KMT2D c.664G>A ;(p.A222T)
Variant ID: 12-49447770-C-T
NM_003482.3(
KMT2D
):c.664G>A;(p.A222T)
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:
Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.
Nature Cancer
Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM
Publication Date: 2021-11
Variant appearance in text: KMT2D: 664G>A; Ala222Thr
PubMed Link:
34870237
Variant Present in the following documents:
EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9
View BVdb publication page
Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Bennett, Jennifer A JA; Ordulu, Zehra Z; Pinto, Andre A; Wanjari, Pankhuri P; Antonescu, Cristina R CR; Ritterhouse, Lauren L LL; Oliva, Esther E
Publication Date: 2022-04
Variant appearance in text: KMT2D: 664G>A; Ala222Thr
PubMed Link:
34131293
Variant Present in the following documents:
NIHMS1710671-supplement-Detailed_Sequencing_Variant_List.xlsx, sheet 1
View BVdb publication page