SDHC c.6del ;(p.A3Rfs*4)

Variant ID: 1-161284201-CT-C

NM_003001.3(SDHC):c.6del;(p.A3Rfs*4)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Cancers
Sprissler, Ryan R; Perkins, Bryce B; Johnstone, Laurel L; Babiker, Hani M HM; Chalasani, Pavani P; Lau, Branden B; Hammer, Michael M; Mahadevan, Daruka D
Publication Date: 2020-06-18

Variant appearance in text: SDHC: 6delT; A3Rfs
PubMed Link: 32570879
Variant Present in the following documents:
  • Main text
  • cancers-12-01618.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: SDHC: 6delT
PubMed Link: 28748451
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_451.pdf
View BVdb publication page



Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

European Journal Of Human Genetics : Ejhg
Boikos, Sosipatros A SA; Xekouki, Paraskevi P; Fumagalli, Elena E; Faucz, Fabio R FR; Raygada, Margarita M; Szarek, Eva E; Ball, Evan E; Kim, Su Young SY; Miettinen, Markku M; Helman, Lee J LJ; Carney, J Aidan JA; Pacak, Karel K; Stratakis, Constantine A CA
Publication Date: 2016-04

Variant appearance in text: SDHC: 6del
PubMed Link: 26173966
Variant Present in the following documents:
  • Main text
View BVdb publication page



Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

The American Journal Of Surgical Pathology
Miettinen, Markku M; Killian, Jonathan Keith JK; Wang, Zeng-Feng ZF; Lasota, Jerzy J; Lau, Christopher C; Jones, Laura L; Walker, Robert R; Pineda, Marbin M; Zhu, Yuelin Jack YJ; Kim, Su Y SY; Helman, Lee L; Meltzer, Paul P
Publication Date: 2013-02

Variant appearance in text: SDHC: 6delT
PubMed Link: 23282968
Variant Present in the following documents:
  • Main text
View BVdb publication page