BRCA1 c.64T>C ;(p.L22=)

Variant ID: 17-41276050-A-G

NM_007294.3(BRCA1):c.64T>C;(p.L22=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01

Variant appearance in text: BRCA1: Leu22Leu
PubMed Link: 35000471
Variant Present in the following documents:
  • sj-pdf-3-imr-10.1177_03000605211070757.pdf
View BVdb publication page



BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01

Variant appearance in text: BRCA1: Leu22Leu
PubMed Link: 35000471
Variant Present in the following documents:
  • sj-pdf-3-imr-10.1177_03000605211070757.pdf
View BVdb publication page



Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10

Variant appearance in text: BRCA1: L22L
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology.

Jco Global Oncology
Malhotra, Hemant H; Kowtal, Pradnya P; Mehra, Nikita N; Pramank, Raja R; Sarin, Rajiv R; Rajkumar, Thangarajan T; Gupta, Sudeep S; Bapna, Ajay A; Bhattacharyya, Gouri Shankar GS; Gupta, Sabhyata S; Maheshwari, Amita A; Mannan, Ashraf U AU; Reddy Kundur, Ravindra R; Sekhon, Rupinder R; Singhal, Manish M; Smruti, B K BK; Sp, Somashekhar S; Suryavanshi, Moushumi M; Verma, Amit A
Publication Date: 2020-07

Variant appearance in text: BRCA1: Leu22Leu
PubMed Link: 32628584
Variant Present in the following documents:
  • JGO.19.00381.pdf
View BVdb publication page



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 64T>C; L22=
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page



Molecular genetics analysis of hereditary breast and ovarian cancer patients in India.

Hereditary Cancer In Clinical Practice
Soumittra, Nagasamy N; Meenakumari, Balaiah B; Parija, Tithi T; Sridevi, Veluswami V; Nancy, Karunakaran N KN; Swaminathan, Rajaraman R; Rajalekshmy, Kamalalayam R KR; Majhi, Urmila U; Rajkumar, Thangarajan T
Publication Date: 2009-08-06

Variant appearance in text: BRCA1: Leu22Leu
PubMed Link: 19656415
Variant Present in the following documents:
  • Main text
  • 1897-4287-7-13.pdf
View BVdb publication page