NCAM1 c.1828+1764C>T

Variant ID: 11-113118856-C-T

NM_181351.5(NCAM1):c.1828+1764C>T

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: rs12794326
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

European Journal Of Human Genetics : Ejhg
Lin, Siying S; Fasham, James J; Al-Hijawi, Fida' F; Qutob, Nouar N; Gunning, Adam A; Leslie, Joseph S JS; McGavin, Lucy L; Ubeyratna, Nishanka N; Baker, Wisam W; Zeid, Ramez R; Turnpenny, Peter D PD; Crosby, Andrew H AH; Baple, Emma L EL; Khalaf-Nazzal, Reham R
Publication Date: 2021-10

Variant appearance in text: rs12794326
PubMed Link: 34012134
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_887.pdf
View BVdb publication page



Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

European Journal Of Human Genetics : Ejhg
Lin, Siying S; Fasham, James J; Al-Hijawi, Fida' F; Qutob, Nouar N; Gunning, Adam A; Leslie, Joseph S JS; McGavin, Lucy L; Ubeyratna, Nishanka N; Baker, Wisam W; Zeid, Ramez R; Turnpenny, Peter D PD; Crosby, Andrew H AH; Baple, Emma L EL; Khalaf-Nazzal, Reham R
Publication Date: 2021-10

Variant appearance in text: rs12794326
PubMed Link: 34012134
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_887.pdf
View BVdb publication page



Connection between genetic and clinical data in bipolar disorder.

Plos One
Mellerup, Erling E; Andreassen, Ole O; Bennike, Bente B; Dam, Henrik H; Djurovic, Srdjan S; Durovic, Srdjan S; Hansen, Thomas T; Melle, Ingrid I; Møller, Gert Lykke GL; Mors, Ole O; Koefoed, Pernille P
Publication Date: 2012

Variant appearance in text: rs12794326
PubMed Link: 23028568
Variant Present in the following documents:
  • Main text
  • pone.0044623.pdf
View BVdb publication page