KIAA0556 R885Q - GET-Evidence

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

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Curation:
Currentness:

KIAA0556 R885Q

(KIAA0556 Arg885Gln)


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 @ chr16:27760935: 1.7% (178/10758) in EVS
  • A @ chr16:27668435: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.7% (178/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr16:27760935

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr16:27760935

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr16:27760935

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr16:27668436

 

Other external references
 

    dbSNP
  • rs16976970
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.97 (probably damaging)
    Web search results (3 hits -- see all)
  • KIAA0556 Gene - GeneCards | K0556 Protein | K0556 Antibody
    KIAA0556 Gene in genomic location: bands according to Ensembl, locations according to ... KIAA0556 for ontologies About GeneDecksing. Antibodies for KIAA0556: ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0556
  • Uncharacterized protein KIAA0556 - Homo sapiens (Human)
    ... K0556_HUMAN Uncharacterized protein KIAA0556 OS=Homo sapiens GN=KIAA0556 PE=1 SV=4 ... Uncharacterized protein KIAA0556. Gene names. Name: KIAA0556. Organism. Homo sapiens (Human) ...
    www.uniprot.org/uniprot/O60303
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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