LDLR c.2495_2496del ;(p.T832Rfs*3)

Variant ID: 19-11240291-CCA-C

NM_000527.4(LDLR):c.2495_2496del;(p.T832Rfs*3)

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:

Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
Moldovan, Valeriu V; Banescu, Claudia C; Dobreanu, Minodora M
Publication Date: 2020-02

Variant appearance in text: LDLR: Thr832Argfs*3
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
  • AJC-23-120.pdf
View BVdb publication page