ALMS1 I2070T - 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:

ALMS1 I2070T

(ALMS1 Ile2070Thr)


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

  • C @ chr2:73679866: 13.7% (1291/9440) in EVS
  • C @ chr2:73533373: 12.5% (16/128) in GET-Evidence
  • Frequency shown in summary reports: 13.7% (1291/9440)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr2:73679866

 

 

 

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr2:73679866

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr2:73533374

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr2:73533374

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr2:73533374

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr2:73533374

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr2:73533374

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr2:73533374

 

Other external references
 

    dbSNP
  • rs10496192
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)
  • SNPs Identified in ALMS1
    I2070T. T/C. WIPGA_03_513. 6410. chr2:73654494. Mis-sense. view. S2100L. C/T. WIPGA_03_514. 6444 ... and Genotyping > Candidate Gene List > ALMS1 Main Page > SNPs Identified in ALMS1 ...
    cardiogenomics.med.harvard.edu/.../ALMS1_validated_SNPs.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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