ABCG8 Y54C - 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:

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ABCG8 Y54C

(ABCG8 Tyr54Cys)


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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 @ chr2:44071743: 31.8% (3426/10758) in EVS
  • G @ chr2:43925246: 29.7% (38/128) in GET-Evidence
  • Frequency shown in summary reports: 31.8% (3426/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr2:44071743

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr2:44071743

 

 

 

 

Added in this revision:

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr2:44071743

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr2:44071743

 

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr2:43925247

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr2:43925247

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr2:43925247

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr2:43925247

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr2:43925247

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr2:43925247

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr2:43925247

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr2:43925247

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr2:43925247

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr2:43925247

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr2:43925247

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr2:43925247

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr2:43925247

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr2:43925247

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr2:43925247

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr2:43925247

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr2:43925247

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr2:43925247

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr2:43925247

 

Other external references
 

    dbSNP
  • rs4148211
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.01 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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