chr11:2132404:T>G Detail (hg38) (IGF2)

Information

Genome

Assembly Position
hg19 chr11:2,153,634-2,153,634 View the variant detail on this assembly version.
hg38 chr11:2,132,404-2,132,404

HGVS

Type Transcript Protein
RefSeq NM_001291861.2:c.*583A>C
NM_000612.5:c.*583A>C
Ensemble ENST00000381395.5:c.*583A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147470 OMIM
HGNC 5466 HGNC
Ensembl ENSG00000167244 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 colon carcinoma We evaluated the association of four insulin-related pathway gene polymorphisms ... BeFree 22565227 Detail
<0.001 Malignant tumor of colon We evaluated the association of four insulin-related pathway gene polymorphisms ... BeFree 22565227 Detail
<0.001 Muscle damage The most significant finding in this study was that for men, IGF-II (C13790G, rs... BeFree 17289909 Detail
<0.001 Muscle damage The most significant finding in this study was that for men, IGF-II (C13790G, rs... BeFree 17289909 Detail
<0.001 Overweight In adolescents, IGF2 rs680(A) was associated with higher glucose (P=0.012) and h... BeFree 25923461 Detail
0.005 Systemic arterial pressure [We propose that long repeat insertion in the insulin gene promoter (] GAD 14749349 Detail
0.005 body mass [We propose that long repeat insertion in the insulin gene promoter (] GAD 14749349 Detail
Annotation

Annotations

DescrptionSourceLinks
We evaluated the association of four insulin-related pathway gene polymorphisms in insulin-like grow... DisGeNET Detail
We evaluated the association of four insulin-related pathway gene polymorphisms in insulin-like grow... DisGeNET Detail
The most significant finding in this study was that for men, IGF-II (C13790G, rs3213221), IGF-II (Ap... DisGeNET Detail
The most significant finding in this study was that for men, IGF-II (C13790G, rs3213221), IGF-II (Ap... DisGeNET Detail
In adolescents, IGF2 rs680(A) was associated with higher glucose (P=0.012) and higher risk in overwe... DisGeNET Detail
[We propose that long repeat insertion in the insulin gene promoter (] DisGeNET Detail
[We propose that long repeat insertion in the insulin gene promoter (] 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
rs680 dbSNP
Genome
hg38
Position
chr11:2,132,404-2,132,404
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser