CFHR1 L159V - 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:

CFHR1 L159V

(CFHR1 Leu159Val)


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 @ chr1:196797244: 28.8% (2798/9724) in EVS
  • G @ chr1:195063866: 47.3% (35/74) in GET-Evidence
  • Frequency shown in summary reports: 28.8% (2798/9724)

Publications
 

Genomes
 

hu034DB1

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr1:196797244

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom G @ chr1:196797244

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr1:196797244

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom G @ chr1:196797244

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom G @ chr1:196797244

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr1:196797244

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr1:196797244

 

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr1:196797244

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr1:196797244

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr1:195063867

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr1:195063867

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr1:195063867

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr1:195063867

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr1:195063867

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr1:195063867

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr1:195063867

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr1:195063867

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr1:195063867

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr1:195063867

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr1:195063867

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr1:195063867

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr1:195063867

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr1:195063867

 

Other external references
 

    dbSNP
  • rs410232
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (5 hits -- see all)
  • Therapeutic Compositions for Age-Related Macular Degeneration ...
    ... H, five Factor H-related genes (CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5) ... proteins 1-5 (CFHR1-5) are each encoded by a unique gene (CFHR1-5). The SCRs of CFHR1-5 are similar to ...
    www.faqs.org/patents/app/20090247451
  • METHODS AND REAGENTS FOR TREATMENT AND DIAGNOSIS OF AGE ...
    ... H, five Factor H-related genes (CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5) ... proteins 1-5 (CFHR1-5) are each encoded by a unique gene (CFHR1-5). The SCRs of CFHR1-5 are similar to ...
    www.faqs.org/patents/app/20090124542
  • CFH Gene - GeneCards | CFAH Protein | CFAH Antibody
    Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database ... CFHR3 2 CR1 2 CFHR1 2 SVEP1 2. CFH for paralogs About GeneDecksing ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CFH&snp=383
  • omega data
    ... A2M ENSG00000175899 ENST00000318602 4.6672 p>0.05 2.247 rs226405 12 9139500 ... A2M ENSG00000175899 ENST00000318602 0.0000 p>0.05 0.128 rs34470791 17 ...
    bioinfo.cipf.es/francisco/project/replicabilty/...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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