CALHM1 L86P - 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:

(See the latest version)

CALHM1 L86P

(CALHM1 Leu86Pro)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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 @ chr10:105218252: 79.8% (8572/10744) in EVS
  • GGC,GGT @ chr10:105208241: 84.4% (81/96) in GET-Evidence
  • Frequency shown in summary reports: 79.8% (8572/10744)

Publications
 

Dreses-Werringloer U, Lambert JC, Vingtdeux V, Zhao H, Vais H, Siebert A, Jain A, Koppel J, Rovelet-Lecrux A, Hannequin D, Pasquier F, Galimberti D, Scarpini E, Mann D, Lendon C, Campion D, Amouyel P, Davies P, Foskett JK, Campagne F, Marambaud P. A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. Cell. 2008 Jun 27;133(7):1149-61. PubMed PMID: 18585350; PubMed Central PMCID: PMC2577842.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het GGT @ chr10:105218252

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom GGT @ chr10:105218252

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr10:105218252

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr10:105218252

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chr10:105208242

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr10:105208242

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr10:105208242

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr10:105208242

 

GS18558 - var-GS18558-1100-36-ASM
hom GGT @ chr10:105208242

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr10:105208242

 

GS18947 - var-GS18947-1100-36-ASM
het GGT @ chr10:105208242

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr10:105208242

 

Added in this revision:

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr10:105208242

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-18

 

snp-2

 

snp-28

 

snp-29

 

snp-3

 

snp-31

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs2986017
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Alzheimer Disease]
    This variant increases amyloid-beta levels by interfering with CALHM1-mediated Ca(2+) permeability. The SNP is significantly associated with Alzheimer's disease in independent case-control studies of 3404 participants.
    www.ncbi.nlm.nih.gov/pubmed/18585350
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in