LDLR c.1387del ;(p.S463Lfs*44)

Variant ID: 19-11224239-CT-C

NM_000527.4(LDLR):c.1387del;(p.S463Lfs*44)

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:

Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Indian Heart Journal
Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF
Publication Date: 2022

Variant appearance in text: LDLR: 1387_1387delT
PubMed Link: 34875256
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page