SIRPB1 R53H - 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:

SIRPB1 R53H

(SIRPB1 Arg53His)


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

  • T @ chr20:1559259: 7.5% (795/10626) in EVS
  • T @ chr20:1507258: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 7.5% (795/10626)

Publications
 

Genomes
 

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom T @ chr20:1559259

 

 

 

 

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr20:1507259

 

Other external references
 

    dbSNP
  • rs2746603
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (8 hits -- see all)
  • SIRPB1 Gene - GeneCards | SIRB1 Protein | SIRB1 Antibody
    SIRPB1 Gene in genomic location: bands according to Ensembl, locations according ... Antibodies for SIRPB1. R&D Systems Antibodies for SIRPB1 (SIRP beta 1 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SIRPB1
  • Signal-regulatory protein beta-1 precursor - Homo sapiens (Human)
    SIRPB1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... 1. R H: dbSNP rs2746603. VAR_028790. Natural variant. 229. 1. M I: dbSNP rs2253427. Ref.3 ...
    www.uniprot.org/uniprot/O00241
  • nsSNP-phase1-to-3-support.tab
    18 phase1and2 g173761 rs7236891 8535785 1 A/G no ENSG00000182579 Q5T931. ... 18 phase1and2 g173763 rs1965665 8774612 1 A/G no ENSG00000168502 KIAA0802. ...
    www-gene.cimr.cam.ac.uk/todd/public_data/...
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Type II- 98%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... 11133775 SIRPB1 O00241 R53H 51 VAR_028790 PKC (0.861) Polymorphism (dbSNP:rs2746603) HK2 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_98.txt
  • UniProt: O00241
    AC O00241; A6NLM2; B2R8V0; Q5TFQ9; Q5TFR0; Q8TB12; Q9H1U5; Q9Y4V0; DT 19-SEP-2002, ... CD172b; DE Flags: Precursor; GN Name=SIRPB1; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot+O00241

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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