HRNR S970G - 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:

HRNR S970G

(HRNR Ser970Gly)


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

  • None available.

Publications
 

Genomes
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het ACC @ chr1:152191195

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het ACC @ chr1:152191195

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het ACC @ chr1:152191195

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het ACC @ chr1:152191195

 

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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