SDHB c.653G>A ;(p.W218*)

Variant ID: 1-17349215-C-T

NM_003000.2(SDHB):c.653G>A;(p.W218*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.

Endocrine Connections
Main, Ailsa Maria AM; Rossing, Maria M; Borgwardt, Line L; Grønkær Toft, Birgitte B; Rasmussen, Åse Krogh ÅK; Feldt-Rasmussen, Ulla U
Publication Date: 2020-08

Variant appearance in text: SDHB: 653G>A; Trp218*
PubMed Link: 32688340
Variant Present in the following documents:
  • Main text
  • supplementary_table_1.pdf
View BVdb publication page



The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell
Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H
Publication Date: 2018-02

Variant appearance in text: SDHB: 653G>A
PubMed Link: 28748451
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_451.pdf
View BVdb publication page



Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers.

Familial Cancer
Eijkelenkamp, Karin K; Osinga, Thamara E TE; de Jong, Mirjam M MM; Sluiter, Wim J WJ; Dullaart, Robin P F RP; Links, Thera P TP; Kerstens, Michiel N MN; van der Horst-Schrivers, Anouk N A AN
Publication Date: 2017-01

Variant appearance in text: SDHB: 653G>A
PubMed Link: 27573198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

Hereditary Cancer In Clinical Practice
Bennedbæk, Marc M; Rossing, Maria M; Rasmussen, Åse K ÅK; Gerdes, Anne-Marie AM; Skytte, Anne-Bine AB; Jensen, Uffe B UB; Nielsen, Finn C FC; Hansen, Thomas V O TVO
Publication Date: 2016

Variant appearance in text: SDHB: 653G>A; Trp218Ter
PubMed Link: 27279923
Variant Present in the following documents:
  • Main text
  • 13053_2016_Article_53.pdf
View BVdb publication page



15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

Endocrine-Related Cancer
Benn, Diana E DE; Robinson, Bruce G BG; Clifton-Bligh, Roderick J RJ
Publication Date: 2015-08

Variant appearance in text: SDHB: W218*
PubMed Link: 26273102
Variant Present in the following documents:
  • ERC150268.pdf
View BVdb publication page