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FH c.1271G>C ;(p.G424A)
Variant ID: 1-241663856-C-G
NM_000143.3(
FH
):c.1271G>C;(p.G424A)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Phase II trial of nivolumab monotherapy and biomarker screening in patients with chemo-refractory germ cell tumors.
International Journal Of Urology : Official Journal Of The Japanese Urological Association
Kawahara, Takashi T; Kawai, Koji K; Kojima, Takahiro T; Nagumo, Yoshiyuki Y; Sakka, Shotarou S; Kandori, Shuya S; Negoro, Hiromitsu H; Mathis, Bryan J BJ; Maruo, Kazushi K; Miura, Koji K; Sakamoto, Noriaki N; Shinohara, Nobuo N; Yamashita, Shinichi S; Yonemori, Kan K; Kishida, Takeshi T; Ukimura, Osamu O; Nishimura, Kazuo K; Kobayashi, Yasuyuki Y; Nishiyama, Hiroyuki H
Publication Date: 2022-07
Variant appearance in text: FH: Gly424Ala
PubMed Link:
35462438
Variant Present in the following documents:
IJU-29-741-s001.xlsx, sheet 1
View BVdb publication page
Metastatic Plasmacytoid Bladder Cancer Harboring a CDH-1 Mutation and Producing High Levels of CA 19-9. A Case Report and Literature Review.
The American Journal Of Case Reports
Telfah, Mohammad M; Parikh, Rahul A RA; Zhang, Da D; Kasi, Anup A
Publication Date: 2020-07-09
Variant appearance in text: FH: G424A
PubMed Link:
32644978
Variant Present in the following documents:
Main text
amjcaserep-21-e923130.pdf
View BVdb publication page
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A
Publication Date: 2020-11
Variant appearance in text: FH: 1271G>C; Gly424Ala
PubMed Link:
32612247
Variant Present in the following documents:
41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.
Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09
Variant appearance in text: FH: G424A
PubMed Link:
32273506
Variant Present in the following documents:
41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page