FH c.979G>A ;(p.A327T)

Variant ID: 1-241667471-C-T

NM_000143.3(FH):c.979G>A;(p.A327T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A
Publication Date: 2020-11

Variant appearance in text: FH: 979G>A; Ala327Thr
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 8
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
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Carbohydrate biomarkers for future disease detection and treatment.

Science China. Chemistry
Cheng, YunFeng Y; Li, MinYong M; Wang, ShaoRu S; Peng, HanJing H; Reid, Suazette S; Ni, NanTing N; Fang, Hao H; Xu, WenFang W; Wang, BingHe B
Publication Date: 2010

Variant appearance in text: FH: Ala327Thr
PubMed Link: 32214994
Variant Present in the following documents:
  • 11426_2010_Article_21.pdf
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Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Dai, Wei W; Zheng, Hong H; Cheung, Arthur Kwok Leung AK; Tang, Clara Sze-man CS; Ko, Josephine Mun Yee JM; Wong, Bonnie Wing Yan BW; Leong, Merrin Man Long MM; Sham, Pak Chung PC; Cheung, Florence F; Kwong, Dora Lai-Wan DL; Ngan, Roger Kai Cheong RK; Ng, Wai Tong WT; Yau, Chun Chung CC; Pan, Jianji J; Peng, Xun X; Tung, Stewart S; Zhang, Zengfeng Z; Ji, Mingfang M; Chiang, Alan Kwok-Shing AK; Lee, Anne Wing-Mui AW; Lee, Victor Ho-Fun VH; Lam, Ka-On KO; Au, Kwok Hung KH; Cheng, Hoi Ching HC; Yiu, Harry Ho-Yin HH; Lung, Maria Li ML
Publication Date: 2016-03-22

Variant appearance in text: FH: A327T
PubMed Link: 26951679
Variant Present in the following documents:
  • Main text
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