ABCC11 V648I - 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:

ABCC11 V648I

(ABCC11 Val648Ile)


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 @ chr16:48234327: 1.3% (138/10758) in EVS
  • T @ chr16:46791827: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (138/10758)

Publications
 

Genomes
 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chr16:48234327

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr16:48234327

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr16:46791828

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr16:46791828

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr16:46791828

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr16:46791828

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr16:46791828

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr16:46791828

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr16:46791828

 

Other external references
 

    dbSNP
  • rs16945930
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.676 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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