ABCG8 V632A - 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:

ABCG8 V632A

(ABCG8 Val632Ala)


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

  • C @ chr2:44104925: 83.9% (9022/10758) in EVS
  • C @ chr2:43958428: 92.2% (118/128) in GET-Evidence
  • Frequency shown in summary reports: 83.9% (9022/10758)

Publications
 

Genomes
 

 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr2:44104925

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr2:44104925

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom C @ chr2:44104925

 

 

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr2:44104925

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr2:44104925

 

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr2:44104925

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr2:44104925

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr2:44104925

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr2:44104925

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom C @ chr2:44104925

 

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr2:43958429

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr2:43958429

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr2:43958429

 

GS10851 - var-GS10851-1100-36-ASM
hom C @ chr2:43958429

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr2:43958429

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr2:43958429

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr2:43958429

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr2:43958429

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr2:43958429

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr2:43958429

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr2:43958429

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr2:43958429

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr2:43958429

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr2:43958429

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr2:43958429

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr2:43958429

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr2:43958429

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr2:43958429

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr2:43958429

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr2:43958429

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chr2:43958429

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr2:43958429

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr2:43958429

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr2:43958429

 

GS19238 - var-GS19238-1100-36-ASM
hom C @ chr2:43958429

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr2:43958429

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr2:43958429

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr2:43958429

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr2:43958429

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr2:43958429

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr2:43958429

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr2:43958429

 

GS19701 - var-GS19701-1100-36-ASM
hom C @ chr2:43958429

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr2:43958429

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr2:43958429

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr2:43958429

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr2:43958429

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr2:43958429

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr2:43958429

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr2:43958429

 

Other external references
 

    dbSNP
  • rs6544718
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (15 hits -- see all)
  • Non-responsiveness to plant sterol treatment and possible ...
    Non-responsiveness to plant sterol treatment and possible polymorphisms: ABCG5, ABCG8 and NPC1L1 ... of the polymorphisms tested: ABCG8 (V632A, D19H, T400K); ABCG5 (A478T, ...
    www.fasebj.org/cgi/content/meeting_abstract/21/6/A1105-c
  • AceView: Gene:ABCG8, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=ABCG8
  • Cancer Panel Annotation
    ABCG8. NM_022437. intron -46. 134. rs6544718. 2. 44016576. 35. ABCG8. NM_022437. coding [10/127] NONSYN. V632A (NP_071882) 0.7. 135. rs1863332. 2. 47541549. 35. MSH2 ...
    snpcenter.grcf.jhmi.edu/downloads/Cancer_Panel_Annotation...
  • genomica 2 - read free pdf
    ABCG5-ABCG8. Forman transportador heterodímero obligado. Genes ... ABCC6 ABCC6 ABCG1 ABCG1 ABCG1 ABCG1 ABCG1 ABCG1 ABCG5 ABCG5 ABCG8 ABCG8 ABCG8 ...
    www.scribd.com/doc/3207034/genomica-2
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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