LDLR c.1683_1691del ;(p.Q561_N564delinsH)

Variant ID: 19-11226864-CAGTGGCCCA-C

NM_000527.4(LDLR):c.1683_1691del;(p.Q561_N564delinsH)

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:

A Selective Screening Strategy Performed in Pre-School Children and Siblings to Detect Familial Hypercholesterolemia.

Children (Basel, Switzerland)
Thajer, Alexandra A; Baumgartner, Margot M; Jorda, Anselm A; Hallwirth, Ulrike U; Lischka, Julia J; Greber-Platzer, Susanne S
Publication Date: 2022-04-21

Variant appearance in text: LDLR: Gln561_Asn564delinsHis
PubMed Link: 35626767
Variant Present in the following documents:
  • children-09-00590.pdf
View BVdb publication page