LDLR c.625T>A ;(p.C209S)

Variant ID: 19-11216207-T-A

NM_000527.4(LDLR):c.625T>A;(p.C209S)

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:

Successful Genetic Screening and Creating Awareness of Familial Hypercholesterolemia and Other Heritable Dyslipidemias in the Netherlands.

Genes
Zuurbier, Linda C LC; Defesche, Joep C JC; Wiegman, Albert A
Publication Date: 2021-07-29

Variant appearance in text: LDLR: 625T>A
PubMed Link: 34440342
Variant Present in the following documents:
  • Main text
  • genes-12-01168.pdf
View BVdb publication page