SLC24A1 L313V - 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:

SLC24A1 L313V

(SLC24A1 Leu313Val)


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 @ chr15:65917355: 6.5% (650/9938) in EVS
  • G @ chr15:63704407: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 6.5% (650/9938)

Publications
 

Genomes
 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr15:65917355

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr15:65917355

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr15:65917355

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr15:63704408

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr15:63704408

 

Other external references
 

    dbSNP
  • rs35571449
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • SLC24A1 Gene - GeneCards | NCKX1 Protein | NCKX1 Antibody
    EntrezGene summary for SLC24A1: SLC24A1 belongs to a family of potassium-dependent sodium ... SLC24A1 Gene in genomic location: bands according to Ensembl, ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SLC24A1
  • Sodium/potassium/calcium exchanger 1 - Homo sapiens (Human)
    SLC24A1. Synonyms: KIAA0702, NCKX1. Organism. Homo sapiens (Human) [Complete proteome] ... 1. L V: dbSNP rs35571449. VAR_050223. Experimental info. Sequence conflict. 516. 1. V I in ...
    www.uniprot.org/uniprot/O60721
  • UniProt: NCKX1_HUMAN
    AC O60721; O43485; O75184; DT 13-DEC-2001, integrated into UniProtKB/Swiss-Prot. ... GC15P063690; -. DR H-InvDB; HIX0012355; -. DR HGNC; HGNC:10975; SLC24A1. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+NCKX1_HUMAN

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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