JAG1 c.686G>A ;(p.C229Y)

Variant ID: 20-10639124-C-T

NM_000214.2(JAG1):c.686G>A;(p.C229Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome.

Bmc Medical Genetics
Ponikowska, Malgorzata M; Pollak, Agnieszka A; Kotwica-Strzalek, Ewa E; Brodowska-Kania, Dorota D; Mosakowska, Magdalena M; Ploski, Rafal R; Niemczyk, Stanislaw S
Publication Date: 2020-10-02

Variant appearance in text: JAG1: Cys229Tyr
PubMed Link: 33008311
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_1134.pdf
View BVdb publication page



Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Human Mutation
Gilbert, Melissa A MA; Bauer, Robert C RC; Rajagopalan, Ramakrishnan R; Grochowski, Christopher M CM; Chao, Grace G; McEldrew, Deborah D; Nassur, James A JA; Rand, Elizabeth B EB; Krock, Bryan L BL; Kamath, Binita M BM; Krantz, Ian D ID; Piccoli, David A DA; Loomes, Kathleen M KM; Spinner, Nancy B NB
Publication Date: 2019-12

Variant appearance in text: JAG1: Cys229Tyr
PubMed Link: 31343788
Variant Present in the following documents:
  • Main text
  • HUMU-40-2197-s001.pdf
  • HUMU-40-2197.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: JAG1: C229Y
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page