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SDHC c.439C>T ;(p.Q147*)
Variant ID: 1-161332152-C-T
NM_003001.3(
SDHC
):c.439C>T;(p.Q147*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.
Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019
Variant appearance in text: SDHC: 439C>T; Gln147*
PubMed Link:
30608972
Variant Present in the following documents:
pone.0210079.s007.xlsx, sheet 19
pone.0210079.s007.xlsx, sheet 18
pone.0210079.s007.xlsx, sheet 21
pone.0210079.s007.xlsx, sheet 4
pone.0210079.s007.xlsx, sheet 20
pone.0210079.s007.xlsx, sheet 22
pone.0210079.s007.xlsx, sheet 3
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: 439C>T
PubMed Link:
28748451
Variant Present in the following documents:
Main text
13238_2017_Article_451.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: SDHC: Q147X
PubMed Link:
26273102
Variant Present in the following documents:
ERC150268.pdf
View BVdb publication page