LTBP4 R635G - GET-Evidence

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

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(LTBP4 Arg635Gly)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs33937741
    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 ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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