HRNR H491Y - 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 H491Y

(HRNR His491Tyr)


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 @ chr1:150459257: 5.3% (6/114) in GET-Evidence
  • Frequency shown in summary reports: 5.3% (6/114)

Publications
 

Genomes
 

hu034DB1

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr1:152192634

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr1:152192634

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr1:152192634

 

huC30901

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr1:152192634

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr1:150459258

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr1:150459258

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr1:150459258

 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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