ABCC11 H1344R - 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:

ABCC11 H1344R

(ABCC11 His1344Arg)


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 @ chr16:48201432: 22.6% (2430/10758) in EVS
  • C @ chr16:46758932: 24.2% (31/128) in GET-Evidence
  • Frequency shown in summary reports: 22.6% (2430/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr16:48201432

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr16:48201432

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr16:48201432

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr16:48201432

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr16:48201432

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr16:48201432

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr16:48201432

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr16:48201432

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr16:48201432

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr16:48201432

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr16:46758933

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr16:46758933

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr16:46758933

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr16:46758933

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr16:46758933

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr16:46758933

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr16:46758933

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr16:46758933

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr16:46758933

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr16:46758933

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr16:46758933

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr16:46758933

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr16:46758933

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr16:46758933

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr16:46758933

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr16:46758933

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr16:46758933

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr16:46758933

 

Other external references
 

    dbSNP
  • rs16945916
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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