ATM c.1804A>G ;(p.N602D)

Variant ID: 11-108123545-A-G

NM_000051.3(ATM):c.1804A>G;(p.N602D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

European Journal Of Human Genetics : Ejhg
Synofzik, Matthis M; Helbig, Katherine L KL; Harmuth, Florian F; Deconinck, Tine T; Tanpaiboon, Pranoot P; Sun, Bo B; Guo, Wenting W; Wang, Ruiwu R; Palmaer, Erika E; Tang, Sha S; Schaefer, G Bradley GB; Gburek-Augustat, Janina J; Züchner, Stephan S; Krägeloh-Mann, Ingeborg I; Baets, Jonathan J; de Jonghe, Peter P; Bauer, Peter P; Chen, S R Wayne SRW; Schöls, Ludger L; Schüle, Rebecca R
Publication Date: 2018-11

Variant appearance in text: ATM: 1804A>G; N602D
PubMed Link: 29925855
Variant Present in the following documents:
  • Main text
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