XPC A499V - 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:

XPC A499V

(XPC Ala499Val)


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

  • A @ chr3:14199887: 20.3% (1588/7820) in EVS
  • A @ chr3:14174888: 18.8% (24/128) in GET-Evidence
  • Frequency shown in summary reports: 20.3% (1588/7820)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr3:14199887

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr3:14199887

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr3:14199887

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr3:14199887

 

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr3:14174889

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr3:14174889

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr3:14174889

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr3:14174889

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr3:14174889

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr3:14174889

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr3:14174889

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr3:14174889

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr3:14174889

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr3:14174889

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr3:14174889

 

Other external references
 

    dbSNP
  • rs2228000
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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