GHRHR A57T - 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:

GHRHR A57T

(GHRHR Ala57Thr)


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

  • A @ chr7:31008686: 13.0% (1401/10744) in EVS
  • A @ chr7:30975210: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 13.0% (1401/10744)

Publications
 

Genomes
 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr7:31008686

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr7:31008686

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr7:30975211

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr7:30975211

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr7:30975211

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr7:30975211

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr7:30975211

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr7:30975211

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr7:30975211

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr7:30975211

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr7:30975211

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr7:30975211

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr7:30975211

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr7:30975211

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr7:30975211

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr7:30975211

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr7:30975211

 

Other external references
 

    dbSNP
  • rs4988496
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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