SREBF1 c.1420_1422delinsATC ;(p.R474I)

Variant ID: 17-17720754-CCG-GAT

NM_004176.4(SREBF1):c.1420_1422delinsATC;(p.R474I)

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:

Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.

Journal Of Clinical And Diagnostic Research : Jcdr
Nuglozeh, Edem E
Publication Date: 2017-06

Variant appearance in text: SREBF1: R474I
PubMed Link: 28764195
Variant Present in the following documents:
  • Main text
View BVdb publication page