CYP2C9 c.1077T>C ;(p.I359=)

Variant ID: 10-96741055-T-C

NM_000771.3(CYP2C9):c.1077T>C;(p.I359=)

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: CYP2C9: I359I
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: CYP2C9: I359I
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Frequency of cytochrome P450 2C9 mutant alleles in a Korean population.

British Journal Of Clinical Pharmacology
Yoon, Y R YR; Shon, J H JH; Kim, M K MK; Lim, Y C YC; Lee, H R HR; Park, J Y JY; Cha, I J IJ; Shin, J G JG
Publication Date: 2001-03

Variant appearance in text: CYP2C9: Ile359Ile
PubMed Link: 11298075
Variant Present in the following documents:
  • Main text
View BVdb publication page