SCN1A c.2889T>C ;(p.A963=)

Variant ID: 2-166894343-A-G

NM_001165963.1(SCN1A):c.2889T>C;(p.A963=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open
SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY
Publication Date: 2020-04-01

Variant appearance in text: SCN1A: 2889T>C; Ala963=
PubMed Link: 32347949
Variant Present in the following documents:
  • jamanetwopen-3-e203812-s001.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: SCN1A: 2889T>C; Ala963=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: SCN1A: A963A
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: SCN1A: A963A
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

American Journal Of Human Genetics
Wallace, R H RH; Scheffer, I E IE; Barnett, S S; Richards, M M; Dibbens, L L; Desai, R R RR; Lerman-Sagie, T T; Lev, D D; Mazarib, A A; Brand, N N; Ben-Zeev, B B; Goikhman, I I; Singh, R R; Kremmidiotis, G G; Gardner, A A; Sutherland, G R GR; George, A L AL; Mulley, J C JC; Berkovic, S F SF
Publication Date: 2001-04

Variant appearance in text:
PubMed Link: 11254444
Variant Present in the following documents:
  • Main text
View BVdb publication page