DHDH A173Shift - 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:

DHDH A173Shift

(DHDH 173delAinsShift)


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

  • G @ chr19:54134661: 0.9% (1/116) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (1/116)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr19:49442850

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr19:49442850

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr19:49442850

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr19:49442850

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr19:49442850

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr19:49442850

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr19:54134669

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr19:54134669

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr19:54134669

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr19:54134669

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr19:54134669

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr19:54134669

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr19:54134669

 

Other external references
 

    dbSNP
  • rs58913518
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs3830420
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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