LDLR A391T - GET-Evidence

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

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(LDLR Ala391Thr)

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



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

  • rs11669576
  • 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
    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. ...
  • Lkhagvasuren, S (Sodnomtsogt)
    Lkhagvasuren, S (Sodnomtsogt) :: Molecular characterization of familial hypercholesterolemia in German and Greek patients. Molecular characterization of familial ...
  • Molecular characterization of familial hypercholesterolemia ...
    BioInfoBank Library :: Molecular characterization of familial hypercholesterolemia in German and Greek patients. Hellenic National Mutation database: a prototype ...
  • 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 ...
  • 1. Einleitung
    Screening Programme für LDLR- Mutationen nur mit Punktmutationen beschäftigt. ... es ist möglich, dass der aktuelle Anteil der größeren Rearrangements in dem LDLR ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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