SLC24A5 T111A - 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:

SLC24A5 T111A

(SLC24A5 Thr111Ala)


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 @ chr15:48426484: 27.0% (2902/10758) in EVS
  • G @ chr15:46213775: 46.1% (59/128) in GET-Evidence
  • Frequency shown in summary reports: 27.0% (2902/10758)

Publications
 

Genomes
 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr15:48426484

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr15:48426484

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom G @ chr15:48426484

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr15:48426484

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr15:46213776

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr15:46213776

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr15:46213776

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr15:46213776

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr15:46213776

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr15:46213776

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr15:46213776

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr15:46213776

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr15:46213776

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr15:46213776

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr15:46213776

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr15:46213776

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr15:46213776

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr15:46213776

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr15:46213776

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr15:46213776

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr15:46213776

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr15:46213776

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr15:46213776

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr15:46213776

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr15:46213776

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr15:46213776

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr15:46213776

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr15:46213776

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr15:46213776

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr15:46213776

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr15:46213776

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr15:46213776

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr15:46213776

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr15:46213776

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr15:46213776

 

Other external references
 

    dbSNP
  • rs1426654
    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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