SCN1A c.3440_3443del ;(p.E1147Afs*16)

Variant ID: 2-166872223-GCTTT-G

NM_001165963.1(SCN1A):c.3440_3443del;(p.E1147Afs*16)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Molecular Syndromology
Møller, Rikke S RS; Larsen, Line H G LH; Johannesen, Katrine M KM; Talvik, Inga I; Talvik, Tiina T; Vaher, Ulvi U; Miranda, Maria J MJ; Farooq, Muhammad M; Nielsen, Jens E K JE; Svendsen, Lene Lavard LL; Kjelgaard, Ditte B DB; Linnet, Karen M KM; Hao, Qin Q; Uldall, Peter P; Frangu, Mimoza M; Tommerup, Niels N; Baig, Shahid M SM; Abdullah, Uzma U; Born, Alfred P AP; Gellert, Pia P; Nikanorova, Marina M; Olofsson, Kern K; Jepsen, Birgit B; Marjanovic, Dragan D; Al-Zehhawi, Lana I K LI; Peñalva, Sofia J SJ; Krag-Olsen, Bente B; Brusgaard, Klaus K; Hjalgrim, Helle H; Rubboli, Guido G; Pal, Deb K DK; Dahl, Hans A HA
Publication Date: 2016-09

Variant appearance in text: SCN1A: 3439_3442del
PubMed Link: 27781031
Variant Present in the following documents:
  • Main text
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