RELN c.8798C>T ;(p.T2933I)

Variant ID: 7-103138569-G-A

NM_005045.3(RELN):c.8798C>T;(p.T2933I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Human Genomics
Al Anazi, Abdulrahman H AH; Ammar, Ahmed S AS; Al-Hajj, Mahmoud M; Cyrus, Cyril C; Aljaafari, Danah D; Khoda, Iname I; Abdelfatah, Ahmed K AK; Alsulaiman, Abdullah A AA; Alanazi, Firas F; Alanazi, Rawan R; Gandla, Divya D; Lad, Hetal H; Barayan, Samar S; Keating, Brendan J BJ; Al-Ali, Amein K AK
Publication Date: 2022-12-20

Variant appearance in text: RELN: 8798C>T; Thr2933Ile; rs201656873
PubMed Link: 36539902
Variant Present in the following documents:
  • 40246_2022_444_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia.

Schizophrenia Bulletin
Balakrishna, Thivia T; Curtis, David D
Publication Date: 2020-02-26

Variant appearance in text: RELN: T2933I
PubMed Link: 31112269
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Orphanet Journal Of Rare Diseases
Barclay, Sarah F SF; Rand, Casey M CM; Borch, Lauren A LA; Nguyen, Lisa L; Gray, Paul A PA; Gibson, William T WT; Wilson, Richard J A RJ; Gordon, Paul M K PM; Aung, Zaw Z; Berry-Kravis, Elizabeth M EM; Ize-Ludlow, Diego D; Weese-Mayer, Debra E DE; Bech-Hansen, N Torben NT
Publication Date: 2015-08-25

Variant appearance in text: RELN: 8798C>T; T2933I
PubMed Link: 26302956
Variant Present in the following documents:
  • Main text
  • 13023_2015_314_MOESM1_ESM.xlsx, sheet 9
  • 13023_2015_Article_314.pdf
View BVdb publication page