LTBP4 R635G - 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:

LTBP4 R635G

(LTBP4 Arg635Gly)


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

  • G @ chr19:41116455: 2.9% (297/10224) in EVS
  • G @ chr19:45808294: 1.6% (2/126) in GET-Evidence
  • Frequency shown in summary reports: 2.9% (297/10224)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr19:41116455

 

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr19:45808295

 

Other external references
 

    dbSNP
  • rs33937741
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • LTBP4 Gene - GeneCards | LTBP4 Protein | LTBP4 Antibody
    EntrezGene summary for LTBP4: Transforming growth factor-beta, or TGFB (see TGFB1; MIM ... LTBP4 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=LTBP4
  • Latent-transforming growth factor beta-binding protein 4 ...
    ... OS=Homo sapiens GN=LTBP4 PE=1 SV=2 MPRPGTSGRRPLLLVLLLPLFAAATSAASPSPSPSQVVEVPGVPSRPASVAVCRCCPGQT ... LTBP4. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ...
    www.uniprot.org/uniprot/Q8N2S1
  • UniProt: LTBP4_HUMAN
    DT 13-NOV-2007, sequence version 2. DT 02-MAR-2010, entry version 70. ... GeneCards; GC19P045790; -. DR H-InvDB; HIX0027450; -. DR HGNC; HGNC:6717; LTBP4. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:LTBP4_HUMAN

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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