LENG8 R279P - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

LENG8 R279P

(LENG8 Arg279Pro)


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

  • C @ chr19:54966557: 1.5% (166/10758) in EVS
  • C @ chr19:59658368: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (166/10758)

Publications
 

Genomes
 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr19:59658369

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr19:59658369

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr19:59658369

 

Other external references
 

    dbSNP
  • rs35061854
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (8 hits -- see all)
  • LENG8 Gene - GeneCards | LENG8 Protein | LENG8 Antibody
    LENG8 Gene in genomic location: bands according to Ensembl, locations ... RNAi Products for Gene knock-down (LENG8) OriGene 29mer shRNA kit in GFP-retroviral ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=LENG8
  • Leukocyte receptor cluster member 8 - Homo sapiens (Human)
    LENG8. Synonyms: KIAA1932. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... LENG8. PharmGKB. PA134903953. HUGE. Search... GenAtlas. Search... Phylogenomic databases ...
    www.uniprot.org/uniprot/Q96PV6
  • Type II- 95%
    ... Q8N5D6 D200N 201 VAR_025071 JakA (0.612) SERPING1 P05155 R466H 463 VAR_007020 PKC (0.668) ... LENG8 Q96PV6 R242P 240 VAR_035294 PKC (0.870) Polymorphism (dbSNP:rs35061854) OTOP3 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Type II- 98%
    ... <body><pre>Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... LENG8 Q96PV6 R242P 240 VAR_035294 PKC (0.870) Polymorphism (dbSNP:rs35061854) HMBS ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_98.txt

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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