KIAA1377 S275Y - 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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Curation:
Currentness:

KIAA1377 S275Y

(KIAA1377 Ser275Tyr)


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 @ chr11:101832590: 3.6% (388/10758) in EVS
  • A @ chr11:101337799: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (388/10758)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr11:101832590

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr11:101832590

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr11:101832590

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr11:101832590

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr11:101337800

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr11:101337800

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr11:101337800

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr11:101337800

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr11:101337800

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr11:101337800

 

Other external references
 

    dbSNP
  • rs11225089
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.983 (probably damaging)
    Web search results (3 hits -- see all)
  • KIAA1377 Gene - GeneCards | K1377 Protein | K1377 Antibody
    KIAA1377 Gene. protein-coding GIFtS: 40. GC11P101290. KIAA1377. Symbol ... KIAA1377 Gene in genomic location: bands according to Ensembl, locations according to ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1377
  • Uncharacterized protein KIAA1377 - Homo sapiens (Human)
    ... K1377_HUMAN Uncharacterized protein KIAA1377 OS=Homo sapiens GN=KIAA1377 PE=1 SV=3 ... Uncharacterized protein KIAA1377. Gene names. Name: KIAA1377. Organism. Homo sapiens (Human) ...
    www.uniprot.org/uniprot/Q9P2H0
  • Type I- 95%
    ... MYCBPAP Q8TBZ2 S910R 910 VAR_035005 IKK (0.685) Polymorphism (dbSNP:rs1133818) ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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