D2HGDH A361V - 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:

(See the latest version)

D2HGDH A361V

(D2HGDH Ala361Val)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • T @ chr2:242690745: 16.2% (1744/10750) in EVS
  • T @ chr2:242339417: 20.3% (26/128) in GET-Evidence
  • Frequency shown in summary reports: 16.2% (1744/10750)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr2:242690745

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr2:242690745

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr2:242339418

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr2:242339418

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr2:242339418

 

GS18504 - var-GS18504-1100-36-ASM
hom T @ chr2:242339418

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr2:242339418

 

GS18526 - var-GS18526-1100-36-ASM
hom T @ chr2:242339418

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr2:242339418

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr2:242339418

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr2:242339418

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr2:242339418

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr2:242339418

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr2:242339418

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr2:242339418

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr2:242339418

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr2:242339418

 

Added in this revision:

GS19735 - var-GS19735-1100-36-ASM
het T @ chr2:242339418

 

NA07022

 

snp-1

 

snp-27

 

snp-28

 

snp-29

 

snp-30

 

Other external references
 

    dbSNP
  • rs1105273
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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