LDLR c.406G>T ;(p.D136Y)

Variant ID: 19-11215988-G-T

NM_000527.4(LDLR):c.406G>T;(p.D136Y)

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: Asp136Tyr
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
  • AJC-23-120.pdf
View BVdb publication page