COL4A1 P54L - 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:

COL4A1 P54L

(COL4A1 Pro54Leu)


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

  • None available.

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr13:110866346

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr13:110866346

 

Other external references
 

    dbSNP
  • rs34004222
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the COL4A1 gene
    Autosomal Dominant Type 1 Porencephaly
    Brain Small Vessel Disease with Hemorrhage
    COL4A1-Related Disorders
    Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cr
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL4A1

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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