LDLR A391T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

LDLR A391T

(LDLR Ala391Thr)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr19:11222300: 9.0% (970/10758) in EVS
  • A @ chr19:11083299: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 9.0% (970/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr19:11222300

 

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr19:11222300

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr19:11083300

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr19:11083300

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr19:11083300

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr19:11083300

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr19:11083300

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr19:11083300

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr19:11083300

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr19:11083300

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr19:11083300

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr19:11083300

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr19:11083300

 

GS19700 - var-GS19700-1100-36-ASM
hom A @ chr19:11083300

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr19:11083300

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr19:11083300

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr19:11083300

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr19:11083300

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr19:11083300

 

Other external references
 

    dbSNP
  • rs11669576
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (16 hits -- see all)
  • FINDbase
    c.2140+5G>A. LDLR. Familiar hypercholesterolemia. p.A391T. LDLR ... LDLR. Familiar hypercholesterolemia. p.S286R. LDLR. Familiar hypercholesterolemia. p.V429M ...
    findbase.org/display-file.php?...&consortium=
  • FINDbase
    c.-3904-2 A>, c.1707+3insT, c.1708-1 G>, c.1782delT, c.2101delAT, c. ... LDLR. Familiar hypercholesterolemia. c.1060+10C>G, c.1587-10G>A, c.2140+5G>A, p.A391T, p. ...
    findbase.org/display-file.php?...&submenu=genes&consortium=
  • Lkhagvasuren, S (Sodnomtsogt)
    Lkhagvasuren, S (Sodnomtsogt) :: Molecular characterization of familial hypercholesterolemia in German and Greek patients. Molecular characterization of familial ...
    lib.bioinfo.pl/auid:2053305
  • Molecular characterization of familial hypercholesterolemia ...
    BioInfoBank Library :: Molecular characterization of familial hypercholesterolemia in German and Greek patients. Hellenic National Mutation database: a prototype ...
    lib.bioinfo.pl/pmid:14974088
  • Detection Of Mutations In A Gene Associated With Resistance ...
    A method for detecting a mutation related to the gene encoding LDLR. ... A391T, originally identified as an LDLR variant in an Afrikaner familial ...
    www.freshpatents.com/-dt20090723ptan20090186028.php
  • 1. Einleitung
    Screening Programme für LDLR- Mutationen nur mit Punktmutationen beschäftigt. ... es ist möglich, dass der aktuelle Anteil der größeren Rearrangements in dem LDLR ...
    diss.fu-berlin.de/diss/servlets/MCRFileNodeServlet/...
  • Apparatus and method for detecting genetic mutations and ...
    A method and means of identifying nucleic acid oligomers is disclosed. A sample is split ... The LDLR gene is located at 19p13.2. Mutations in this gene cause the FH phenotype. ...
    www.freepatentsonline.com/7279280.html

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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