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rs121913499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913499(C;T)
Make rs121913499(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position208248389
GeneIDH1
is asnp
is mentioned by
dbSNPrs121913499
dbSNP (old)rs121913499
ClinGenrs121913499
ebirs121913499
HLIrs121913499
Exacrs121913499
Gnomadrs121913499
Varsomers121913499
Maprs121913499
PheGenIrs121913499
Biobankrs121913499
1000 genomesrs121913499
hgdprs121913499
ensemblrs121913499
gopubmedrs121913499
geneviewrs121913499
scholarrs121913499
googlers121913499
pharmgkbrs121913499
gwascentralrs121913499
openSNPrs121913499
23andMers121913499
23andMe allrs121913499
SNPshotrs121913499
SNPdbers121913499
MSV3drs121913499
GWAS Ctlgrs121913499
Max Magnitude0

aka c.394C>T, p.Arg132Cys and R132C

IDH1 variants are sometimes observed as somatic mutations in some glioblastomas [PMID 18772396OA-icon.png]

ClinVar
Risk rs121913499(A;A) rs121913499(G;G) rs121913499(T;T)
Alt rs121913499(A;A) rs121913499(G;G) rs121913499(T;T)
Reference Rs121913499(C;C)
Significance Pathogenic
Disease Neoplasm of brain Adenocarcinoma of lung Neoplasm of breast Astrocytoma Hepatocellular carcinoma Medulloblastoma Multiple myeloma Malignant melanoma of skin Transitional cell carcinoma of the bladder Adenoid cystic carcinoma Colorectal Neoplasms Adenocarcinoma of prostate Brainstem glioma Glioblastoma Myelodysplastic syndrome Acute myeloid leukemia
Variation info
Gene IDH1
CLNDBN Neoplasm of brain Adenocarcinoma of lung Neoplasm of breast Astrocytoma Hepatocellular carcinoma Medulloblastoma Multiple myeloma Malignant melanoma of skin Transitional cell carcinoma of the bladder Adenoid cystic carcinoma Colorectal Neoplasms Adenocarcinoma of prostate Brainstem glioma Glioblastoma Myelodysplastic syndrome Acute myeloid leukemia
Reversed 1
HGVS NC_000002.11:g.209113113G>A; NC_000002.11:g.209113113G>C; NC_000002.11:g.209113113G>T
CLNSRC
CLNACC RCV000418601.1, RCV000419656.1, RCV000420988.1, RCV000421691.1, RCV000426141.1, RCV000428207.1, RCV000429279.1, RCV000430360.1, RCV000434107.1, RCV000435816.1, RCV000436904.1, RCV000437909.1, RCV000438918.1, RCV000439965.1, RCV000441917.1, RCV000445302.1, RCV000417625.1, RCV000418685.1, RCV000419742.1, RCV000424071.1, RCV000425039.1, RCV000427476.1, RCV000427882.1, RCV000428941.1, RCV000434778.1, RCV000435299.1, RCV000436387.1, RCV000437708.1, RCV000440922.1, RCV000442058.1, RCV000444712.1, RCV000418324.1, RCV000423616.1, RCV000424342.1, RCV000424724.1, RCV000425839.1, RCV000426812.1, RCV000430064.1, RCV000431514.1, RCV000432144.1, RCV000434628.1, RCV000435988.1, RCV000437066.1, RCV000440287.1, RCV000441330.1, RCV000442342.1, RCV000445051.1,