CACNA1S L1800S - 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:

CACNA1S L1800S

(CACNA1S Leu1800Ser)


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 @ chr1:201009182: 27.2% (2929/10758) in EVS
  • G @ chr1:199275804: 27.3% (35/128) in GET-Evidence
  • Frequency shown in summary reports: 27.2% (2929/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr1:201009182

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr1:201009182

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr1:201009182

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr1:201009182

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr1:201009182

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr1:201009182

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr1:199275805

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr1:199275805

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr1:199275805

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr1:199275805

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr1:199275805

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr1:199275805

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr1:199275805

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr1:199275805

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr1:199275805

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr1:199275805

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr1:199275805

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr1:199275805

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr1:199275805

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr1:199275805

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr1:199275805

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr1:199275805

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr1:199275805

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr1:199275805

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr1:199275805

 

GS21767 - var-GS21767-1100-36-ASM
hom G @ chr1:199275805

 

NA12878

 

Other external references
 

    dbSNP
  • rs12139527
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CACNA1S gene
    CACNA1S-Related Malignant Hyperthermia Susceptibility
    Hypokalemic Periodic Paralysis
    Hypokalemic Periodic Paralysis Type 1
    Malignant Hyperthermia Susceptibility
    KCNE3-Related Hypokalemic Periodic Paralysis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CACNA1S

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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