GNAS P376L - 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:

GNAS P376L

(GNAS Pro376Leu)


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

  • T @ chr20:57429447: 2.1% (199/9670) in EVS
  • T @ chr20:56862841: 3.6% (4/112) in GET-Evidence
  • Frequency shown in summary reports: 2.1% (199/9670)

Publications
 

Genomes
 

hu0D879F

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr20:57429447

 

Other external references
 

    dbSNP
  • rs61749697
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the GNAS gene
    Albright Hereditary Osteodystrophy
    McCune-Albright Syndrome
    Osseus Heteroplasia, Progressive
    Pseudohypoparathyroidism Type IB
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNAS

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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