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KMT2D c.3262C>T ;(p.P1088S)
Variant ID: 12-49444109-G-A
NM_003482.3(
KMT2D
):c.3262C>T;(p.P1088S)
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:
Case Report: Molecular Characterization of Aggressive Malignant Retroperitoneal Solitary Fibrous Tumor: A Case Study.
Frontiers In Oncology
Nonaka, Haruna H; Kandori, Shuya S; Nitta, Satoshi S; Shiga, Masanobu M; Nagumo, Yoshiyuki Y; Kimura, Tomokazu T; Kawahara, Takashi T; Negoro, Hiromitsu H; Hoshi, Akio A; Kojima, Takahiro T; Kawai, Koji K; Mathis, Bryan J BJ; Tamura, Takuro T; Sato, Taka-Aki TA; Yamato, Mariko M; Noguchi, Masayuki M; Nishiyama, Hiroyuki H
Publication Date: 2021
Variant appearance in text: KMT2D: Pro1088Ser
PubMed Link:
35004271
Variant Present in the following documents:
Table_5.xlsx, sheet 1
Table_2.xlsx, sheet 1
View BVdb publication page
Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.
Oncotarget
Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P
Publication Date: 2020-04-07
Variant appearance in text: KMT2D: 3262C>T; Pro1088Ser
PubMed Link:
32292574
Variant Present in the following documents:
oncotarget-11-1244-s005.xlsx, sheet 1
View BVdb publication page