BAK1 c.309G>A ;(p.T103=)

Variant ID: 6-33543116-C-T

NM_001188.3(BAK1):c.309G>A;(p.T103=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: BAK1: T103T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
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Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: BAK1: T103T; rs561276
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Common variants within 6p21.31 locus are associated with chronic lymphocytic leukaemia and, potentially, other non-Hodgkin lymphoma subtypes.

British Journal Of Haematology
Slager, Susan L SL; Camp, Nicola J NJ; Conde, Lucia L; Shanafelt, Tait D TD; Achenbach, Sara J SJ; Rabe, Kari G KG; Kay, Neil E NE; Novak, Anne J AJ; Call, Timothy G TG; Bracci, Paige M PM; Sille, Fenna M C FM; Sanchez, Sylvia S; Akers, Nicholas K NK; Cunningham, Julie M JM; Serie, Daniel J DJ; McDonnell, Shannon K SK; Leis, Jose F JF; Wang, Alice H AH; Weinberg, J Brice JB; Glenn, Martha M; Link, Brian B; Vachon, Celine M CM; Lanasa, Mark C MC; Skibola, Christine F CF; Cerhan, James R JR
Publication Date: 2012-12

Variant appearance in text: rs561276
PubMed Link: 23025533
Variant Present in the following documents:
  • Main text
View BVdb publication page