SDHD c.118A>G ;(p.I40V)

Variant ID: 11-111958646-A-G

NM_003002.3(SDHD):c.118A>G;(p.I40V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Journal Of Medical Genetics
Andrews, Katrina A KA; Ascher, David B DB; Pires, Douglas Eduardo Valente DEV; Barnes, Daniel R DR; Vialard, Lindsey L; Casey, Ruth T RT; Bradshaw, Nicola N; Adlard, Julian J; Aylwin, Simon S; Brennan, Paul P; Brewer, Carole C; Cole, Trevor T; Cook, Jackie A JA; Davidson, Rosemarie R; Donaldson, Alan A; Fryer, Alan A; Greenhalgh, Lynn L; Hodgson, Shirley V SV; Irving, Richard R; Lalloo, Fiona F; McConachie, Michelle M; McConnell, Vivienne P M VPM; Morrison, Patrick J PJ; Murday, Victoria V; Park, Soo-Mi SM; Simpson, Helen L HL; Snape, Katie K; Stewart, Susan S; Tomkins, Susan E SE; Wallis, Yvonne Y; Izatt, Louise L; Goudie, David D; Lindsay, Robert S RS; Perry, Colin G CG; Woodward, Emma R ER; Antoniou, Antonis C AC; Maher, Eamonn R ER
Publication Date: 2018-06

Variant appearance in text: SDHD: 118A>G; Ile40Val
PubMed Link: 29386252
Variant Present in the following documents:
  • Main text
  • jmedgenet-2017-105127.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: SDHD: 118A>G
PubMed Link: 28748451
Variant Present in the following documents:
  • Main text
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: PGL: I40V
PubMed Link: 26273102
Variant Present in the following documents:
  • ERC150268.pdf
View BVdb publication page