chr15:90631935:G>C Detail (hg19) (IDH2)

Information

Genome

Assembly Position
hg19 chr15:90,631,935-90,631,935
hg38 chr15:90,088,703-90,088,703 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001289910.1:c.262C>G NP_001276839.1:p.Arg88Gly
NM_001290114.1:c.262C>G NP_001277043.1:p.Arg88Gly
NM_002168.3:c.418C>G NP_002159.2:p.Arg140Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 147650 OMIM
HGNC 5383 HGNC
Ensembl ENSG00000182054 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1737874 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-11-01 no assertion criteria provided D-2-hydroxyglutaric aciduria 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 D-2-hydroxyglutaric aciduria 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002168.4(IDH2):c.418C>G (p.Arg140Gly) AND D-2-hydroxyglutaric aciduria 2 ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs267606870 dbSNP
Genome
hg19
Position
chr15:90,631,935-90,631,935
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser