Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:

Currentness:

(See the latest version)

D2HGDH A361V

(D2HGDH Ala361Val)

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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.)

unknown

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

Deleted in this revision:

Other external references

dbSNP

rs1105273
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the D2HGDH gene
D-2-Hydroxyglutaric Aciduria
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/D2HGDH

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

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_H01 from PGP sample 94797469 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_F02 from PGP sample 95788191 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B04 from PGP sample 88590671 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_A04 from PGP sample 13272228 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F02 from PGP sample 70008981 view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed G/aq'o view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Jun 22 2011 Genome Importing Robot removed Desmond Tutu view
Jun 22 2011 Genome Importing Robot removed !Ai view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Mar 29 2011 Genome Importing Robot added var-GS21767-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS20509-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19834-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19735-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19703-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19700-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19669-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19129-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19025-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19017-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18947-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18940-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18555-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18501-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18504-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-ASM view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
Feb 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added Desmond Tutu view
Feb 27 2010 Genome Importing Robot added G/aq'o view
Feb 27 2010 Genome Importing Robot added !Ai view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

D2HGDH A361V - GET-Evidence