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!


DHDH A173Shift

(DHDH 173delAinsShift)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs58913518
  • rs3830420

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in