IGHMBP2 c.1193C>A ;(p.A398E)

Variant ID: 11-68696783-C-A

NM_002180.2(IGHMBP2):c.1193C>A;(p.A398E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Cell Reports
Gonzaga-Jauregui, Claudia C; Harel, Tamar T; Gambin, Tomasz T; Kousi, Maria M; Griffin, Laurie B LB; Francescatto, Ludmila L; Ozes, Burcak B; Karaca, Ender E; Jhangiani, Shalini N SN; Bainbridge, Matthew N MN; Lawson, Kim S KS; Pehlivan, Davut D; Okamoto, Yuji Y; Withers, Marjorie M; Mancias, Pedro P; Slavotinek, Anne A; Reitnauer, Pamela J PJ; Goksungur, Meryem T MT; Shy, Michael M; Crawford, Thomas O TO; Koenig, Michel M; Willer, Jason J; Flores, Brittany N BN; Pediaditrakis, Igor I; Us, Onder O; Wiszniewski, Wojciech W; Parman, Yesim Y; Antonellis, Anthony A; Muzny, Donna M DM; , ; Katsanis, Nicholas N; Battaloglu, Esra E; Boerwinkle, Eric E; Gibbs, Richard A RA; Lupski, James R JR
Publication Date: 2015-08-18

Variant appearance in text: IGHMBP2: A398E
PubMed Link: 26257172
Variant Present in the following documents:
  • Main text
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