GAA c.1165_1166delinsCC ;(p.E389P)

Variant ID: 17-78082377-GA-CC

NM_000152.3(GAA):c.1165_1166delinsCC;(p.E389P)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Intermediate filament diseases: desminopathy.

Advances In Experimental Medicine And Biology
Goldfarb, Lev G LG; Olivé, Montse M; Vicart, Patrick P; Goebel, Hans H HH
Publication Date: 2008

Variant appearance in text: GAA: Glu389Pro
PubMed Link: 19181099
Variant Present in the following documents:
  • Main text
View BVdb publication page