RHBG G76D - 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.

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Curation:
Currentness:

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RHBG G76D

(RHBG Gly76Asp)


You are viewing an old version of this page that was saved on May 8, 2010 at 4:43pm by Genome Importing Robot.

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 @ chr1:156347131: 37.2% (3999/10758) in EVS
  • A @ chr1:154613754: 24.2% (31/128) in GET-Evidence
  • Frequency shown in summary reports: 37.2% (3999/10758)

Publications
 

Genomes
 

Added in this revision:

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr1:156347131

 

NA07022

 

NA12878

 

NA19129

 

snp-27

 

snp-5

 

Other external references
 

    dbSNP
  • rs2245623
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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