CCNJL H234Y - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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(CCNJL His234Tyr)

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 @ chr5:159686503: 4.7% (477/10226) in EVS
  • A @ chr5:159619080: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (477/10226)



huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr5:159686503


GS06985 - var-GS06985-1100-36-ASM
het A @ chr5:159619081


GS18940 - var-GS18940-1100-36-ASM
het A @ chr5:159619081


GS19129 - var-GS19129-1100-36-ASM
het A @ chr5:159619081


Other external references

  • rs13362036
  • Score: 0.472 (possibly damaging)
    Web search results (3 hits -- see all)
  • CCNJL Gene - GeneCards | CCNJL Protein | CCNJL Antibody
    CCNJL Gene in genomic location: bands according to Ensembl, locations ... for CCNJL gene (According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according ...
  • Cyclin-J-like protein - Homo sapiens (Human)
    CCNJL. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... 1. H Y: dbSNP rs13362036. VAR_053053. Hide | Top. SequencesHide. Sequence. Length. Mass (Da) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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