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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SLC24A1 L313V

(SLC24A1 Leu313Val)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)




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

  • rs35571449
    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, ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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