SERTAD1 c.93A>T ;(p.T31=)

Variant ID: 19-40929361-T-A

NM_013376.3(SERTAD1):c.93A>T;(p.T31=)

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:

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: SERTAD1: T31T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_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: SERTAD1: T31T
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page


Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.

Plos One
Olivier, Magali M; Bouaoun, Liacine L; Villar, Stephanie S; Robitaille, Alexis A; Cahais, Vincent V; Heguy, Adriana A; Byrnes, Graham G; Le Calvez-Kelm, Florence F; Torres-Mejía, Gabriela G; Alvarado-Cabrero, Isabel I; Imani-Razavi, Fazlollah Shahram FS; Inés Sánchez, Gloria G; Jaramillo, Roberto R; Porras, Carolina C; Rodriguez, Ana Cecilia AC; Garmendia, Maria Luisa ML; Soto, José Luis JL; Romieu, Isabelle I; Porter, Peggy P; Guenthoer, Jamie J; Rinaldi, Sabina S; ,
Publication Date: 2019

Variant appearance in text: SERTAD1: T31T
PubMed Link: 30653559
Variant Present in the following documents:
  • pone.0210372.s001.xlsx, sheet 3
View BVdb publication page