KLHL38 C504Y - GET-Evidence

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

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KLHL38 C504Y

(KLHL38 Cys504Tyr)

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

  • T @ chr8:124658214: 8.2% (852/10368) in EVS
  • T @ chr8:124727394: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 8.2% (852/10368)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr8:124658214


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr8:124658214



hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr8:124658214


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr8:124658214


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr8:124658214


GS21767 - var-GS21767-1100-36-ASM
het T @ chr8:124727395


Other external references

  • rs11779866
  • Score: 0.999 (probably damaging)
    Web search results (3 hits -- see all)
  • KLHL38 Gene - GeneCards | KLH38 Protein | KLH38 Antibody
    KLHL38 Gene in genomic location: bands according to Ensembl, locations according ... alleles for Klhl38 (no phenotypes) KLHL38 for phenotypes About ...
  • Kelch-like protein 38 - Homo sapiens (Human)
    KLHL38. Synonyms: C8orfK36. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... C Y: dbSNP rs11779866. VAR_059440. Experimental info. Sequence conflict. 98. 1. R H in ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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