HEATR7B2 W191Q - 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:

HEATR7B2 W191Q

(HEATR7B2 Trp191Gln)


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

  • TG @ chr5:41097471: 23.8% (30/126) in GET-Evidence
  • Frequency shown in summary reports: 23.8% (30/126)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het CG @ chr5:41061715

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het CG @ chr5:41061715

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom TG @ chr5:41061715

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het CG @ chr5:41061715

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het TG @ chr5:41061715

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het CG @ chr5:41061715

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het CG @ chr5:41061715

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het TG @ chr5:41061715

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het CG @ chr5:41061715

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het CG @ chr5:41061715

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het CG @ chr5:41061715

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het CG @ chr5:41061715

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het CG @ chr5:41061715

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het CG @ chr5:41061715

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het TG @ chr5:41061715

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het CG @ chr5:41061715

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het CG @ chr5:41061715

 

GS06994 - var-GS06994-1100-36-ASM
het TG @ chr5:41097472

 

GS07357 - var-GS07357-1100-36-ASM
hom TG @ chr5:41097472

 

GS18537 - var-GS18537-1100-36-ASM
hom TG @ chr5:41097472

 

GS18555 - var-GS18555-1100-36-ASM
het TG @ chr5:41097472

 

GS18558 - var-GS18558-1100-36-ASM
hom TG @ chr5:41097472

 

GS18947 - var-GS18947-1100-36-ASM
het TG @ chr5:41097472

 

GS18956 - var-GS18956-1100-36-ASM
het TG @ chr5:41097472

 

GS19669 - var-GS19669-1100-36-ASM
het TG @ chr5:41097472

 

GS19670 - var-GS19670-1100-36-ASM
hom TG @ chr5:41097472

 

GS20509 - var-GS20509-1100-36-ASM
het TG @ chr5:41097472

 

Other external references
 

    dbSNP
  • rs1023840
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs865093
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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