FH c.270C>T ;(p.T90=)

Variant ID: 1-241677011-G-A

NM_000143.3(FH):c.270C>T;(p.T90=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: FH: T90t
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
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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: N/A
PubMed Link: 32612247
Variant Present in the following documents:
View BVdb publication page



2019 Congress of the Italian Society of Neonatology : Catania, Italy. 25 -27 September 2019.

Italian Journal Of Pediatrics
Publication Date: 2019-12-18

Variant appearance in text: FH: T90=
PubMed Link: 31849337
Variant Present in the following documents:
  • Main text
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