GC c.293_294insA ;(p.S98Rfs*2)

Variant ID: 4-72631328-A-AT

NM_000583.3(GC):c.293_294insA;(p.S98Rfs*2)

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:

Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: identification of three novel mutations in the APOA1 gene.

The Journal Of Molecular Diagnostics : Jmd
Eriksson, Magdalena M; Schönland, Stefan S; Yumlu, Saniye S; Hegenbart, Ute U; von Hutten, Hanna H; Gioeva, Zarina Z; Lohse, Peter P; Büttner, Janine J; Schmidt, Hartmut H; Röcken, Christoph C
Publication Date: 2009-05

Variant appearance in text: GC: 293_294insA
PubMed Link: 19324996
Variant Present in the following documents:
  • Main text
View BVdb publication page