APOB c.11333C>A ;(p.S3778*)

Variant ID: 2-21228407-G-T

NM_000384.2(APOB):c.11333C>A;(p.S3778*)

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:

Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia.

Case Reports In Genetics
Peddareddygari, Leema Reddy LR; Grewal, Raji P RP
Publication Date: 2015

Variant appearance in text: APOB: 11333C>A; S3778X
PubMed Link: 26064709
Variant Present in the following documents:
  • Main text
  • CRIG2015-219691.pdf
View BVdb publication page