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SDHD c.302T>C ;(p.L101P)
Variant ID: 11-111959723-T-C
NM_003002.3(
SDHD
):c.302T>C;(p.L101P)
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:
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Garrett, Alice A; Loveday, Chey C; King, Laura L; Butler, Samantha S; Robinson, Rachel R; Horton, Carrie C; Yussuf, Amal A; Choi, Subin S; Torr, Beth B; Durkie, Miranda M; Burghel, George J GJ; Drummond, James J; Berry, Ian I; Wallace, Andrew A; Callaway, Alison A; Eccles, Diana D; Tischkowitz, Marc M; Tatton-Brown, Katrina K; Snape, Katie K; McVeigh, Terri T; Izatt, Louise L; Woodward, Emma R ER; Burnichon, Nelly N; Gimenez-Roqueplo, Anne-Paule AP; Mazzarotto, Francesco F; Whiffin, Nicola N; Ware, James J; Hanson, Helen H; Pesaran, Tina T; LaDuca, Holly H; Buffet, Alexandre A; Maher, Eamonn R ER; Turnbull, Clare C; ,
Publication Date: 2021-11-19
Variant appearance in text: SDHD: 302T>C; Leu101Pro
PubMed Link:
34906457
Variant Present in the following documents:
mmc1.xlsx, sheet 3
View BVdb publication page
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Garrett, Alice A; Loveday, Chey C; King, Laura L; Butler, Samantha S; Robinson, Rachel R; Horton, Carrie C; Yussuf, Amal A; Choi, Subin S; Torr, Beth B; Durkie, Miranda M; Burghel, George J GJ; Drummond, James J; Berry, Ian I; Wallace, Andrew A; Callaway, Alison A; Eccles, Diana D; Tischkowitz, Marc M; Tatton-Brown, Katrina K; Snape, Katie K; McVeigh, Terri T; Izatt, Louise L; Woodward, Emma R ER; Burnichon, Nelly N; Gimenez-Roqueplo, Anne-Paule AP; Mazzarotto, Francesco F; Whiffin, Nicola N; Ware, James J; Hanson, Helen H; Pesaran, Tina T; LaDuca, Holly H; Buffet, Alexandre A; Maher, Eamonn R ER; Turnbull, Clare C; ,
Publication Date: 2022-01
Variant appearance in text: SDHD: 302T>C; Leu101Pro
PubMed Link:
34906457
Variant Present in the following documents:
mmc1.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: SDHD: 302T>C
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: SDHD: L101P
PubMed Link:
26273102
Variant Present in the following documents:
ERC150268.pdf
View BVdb publication page