CR1L R97C - 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:

CR1L R97C

(CR1L Arg97Cys)


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

  • T @ chr1:207851554: 3.7% (362/9672) in EVS
  • T @ chr1:205918176: 1.6% (2/124) in GET-Evidence
  • Frequency shown in summary reports: 3.7% (362/9672)

Publications
 

Genomes
 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr1:207851554

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr1:205918177

 

Other external references
 

    dbSNP
  • rs72468037
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.933 (probably damaging)
    Web search results (1 hit -- see all)
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... JakA (0.612) SERPING1 P05155 R466H 463 VAR_007020 PKC (0.668) HAE, type 2, AT ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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