ERBB2 c.3556G>A ;(p.A1186T)

Variant ID: 17-37884085-G-A

NM_004448.2(ERBB2):c.3556G>A;(p.A1186T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.

Journal Of Cellular And Molecular Medicine
Cameli, Cinzia C; Viggiano, Marta M; Rochat, Magali J MJ; Maresca, Alessandra A; Caporali, Leonardo L; Fiorini, Claudio C; Palombo, Flavia F; Magini, Pamela P; Duardo, Renée C RC; Ceroni, Fabiola F; Scaduto, Maria C MC; Posar, Annio A; Seri, Marco M; Carelli, Valerio V; Visconti, Paola P; Bacchelli, Elena E; Maestrini, Elena E
Publication Date: 2021-03

Variant appearance in text: ERBB2: Ala1186Thr
PubMed Link: 33476483
Variant Present in the following documents:
  • Main text
  • JCMM-25-2459.pdf
View BVdb publication page