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KMT2D c.1016G>A ;(p.W339*)
Variant ID: 12-49446794-C-T
NM_003482.3(
KMT2D
):c.1016G>A;(p.W339*)
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:
Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.
Biomarker Research
Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC
Publication Date: 2021-10-09
Variant appearance in text: KMT2D: W339X
PubMed Link:
34635181
Variant Present in the following documents:
40364_2021_330_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Human Molecular Genetics
Cocciadiferro, Dario D; Augello, Bartolomeo B; De Nittis, Pasquelena P; Zhang, Jiyuan J; Mandriani, Barbara B; Malerba, Natascia N; Squeo, Gabriella M GM; Romano, Alessandro A; Piccinni, Barbara B; Verri, Tiziano T; Micale, Lucia L; Pasqualucci, Laura L; Merla, Giuseppe G
Publication Date: 2018-11-01
Variant appearance in text: KMT2D: 1016G>A; Trp339*
PubMed Link:
30107592
Variant Present in the following documents:
Main text
View BVdb publication page