HRNR H2772R - 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 H2772R

(HRNR His2772Arg)


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

  • C @ chr1:152185790: 43.6% (4030/9252) in EVS
  • CGA @ chr1:150452413: 51.6% (64/124) in GET-Evidence
  • Frequency shown in summary reports: 43.6% (4030/9252)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het CGA @ chr1:152185790

 

hu0D879F

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het CGA @ chr1:152185790

 

hu34D5B9 - hu34D5B9 exome
hom C @ chr1:152185790

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het CGA @ chr1:152185790

 

hu604D39

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het CGA @ chr1:152185790

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het CGA @ chr1:152185790

 

huBEDA0B

 

huC30901

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het CGA @ chr1:152185790

 

GS06985 - var-GS06985-1100-36-ASM
hom CGA @ chr1:150452414

 

GS06994 - var-GS06994-1100-36-ASM
hom CGA @ chr1:150452414

 

GS07357 - var-GS07357-1100-36-ASM
hom CGA @ chr1:150452414

 

GS18501 - var-GS18501-1100-36-ASM
hom CGA @ chr1:150452414

 

GS18504 - var-GS18504-1100-36-ASM
hom CGA @ chr1:150452414

 

GS18505 - var-GS18505-1100-36-ASM
hom CGA @ chr1:150452414

 

GS18555 - var-GS18555-1100-36-ASM
hom CGA @ chr1:150452414

 

GS19017 - var-GS19017-1100-36-ASM
hom CGA @ chr1:150452414

 

GS19025 - var-GS19025-1100-36-ASM
hom CGA @ chr1:150452414

 

GS19238 - var-GS19238-1100-36-ASM
hom CGA @ chr1:150452414

 

GS19648 - var-GS19648-1100-36-ASM
hom CGA @ chr1:150452414

 

GS19649 - var-GS19649-1100-36-ASM
hom CGA @ chr1:150452414

 

GS19669 - var-GS19669-1100-36-ASM
hom CGA @ chr1:150452414

 

GS19701 - var-GS19701-1100-36-ASM
hom CGA @ chr1:150452414

 

GS19704 - var-GS19704-1100-36-ASM
hom CGA @ chr1:150452414

 

GS19834 - var-GS19834-1100-36-ASM
hom CGA @ chr1:150452414

 

GS20509 - var-GS20509-1100-36-ASM
hom CGA @ chr1:150452414

 

Other external references
 

    dbSNP
  • rs76102381
    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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