chr2:209113210:T>C Detail (hg19) (IDH1)

Information

Genome

Assembly Position
hg19 chr2:209,113,210-209,113,210
hg38 chr2:208,248,486-208,248,486 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282387.1:c.297A>G NP_001269316.1:p.Ile99Met
NM_005896.3:c.297A>G NP_005887.2:p.Ile99Met
NM_001282386.1:c.297A>G NP_001269315.1:p.Ile99Met
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147700 OMIM
HGNC 5382 HGNC
Ensembl ENSG00000138413 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10303720 TogoVar
COSMIC COSM53043 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Neoplasm of ovary (disorder) unknown MGS000022
(TMGS000081) 		Manabu Muto Kyoto University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
-
Genome
hg19
Position
chr2:209,113,210-209,113,210
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.4666050381326557E-4
Chromosome Counts in All Race (ExAC)
121404
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.471088267272907E-5
Genome browser