chr11:2159877:T>C Detail (hg38) (INS, INS-IGF2)

Information

Genome

Assembly Position
hg19 chr11:2,181,107-2,181,107 View the variant detail on this assembly version.
hg38 chr11:2,159,877-2,159,877

HGVS

Type Transcript Protein
RefSeq NM_000207.2:c.308A>G NP_000198.1:p.Tyr103Cys
NM_001185097.1:c.308A>G NP_001172026.1:p.Tyr103Cys
NM_001185098.1:c.308A>G NP_001172027.1:p.Tyr103Cys
Type Transcript Protein
RefSeq NM_001042376.2:c.187+908A>G
Ensemble ENST00000397270.1:c.187+908A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 176730 OMIM
HGNC 6081 HGNC
Ensembl ENSG00000254647 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 33527 HGNC
Ensembl ENSG00000129965 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
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2017-03-28 criteria provided, single submitter permanent neonatal diabetes mellitus germline not provided Detail
Uncertain significance 2021-11-06 criteria provided, single submitter not provided germline Detail
Likely risk allele criteria provided, single submitter Diabetes mellitus, permanent neonatal 4 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.568 DIABETES MELLITUS, PERMANENT NEONATAL Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS... UNIPROT 18162506 Detail
0.004 Non-alcoholic Fatty Liver Disease G308A polymorphism of TNF-alpha gene is associated with insulin resistance and h... BeFree 21057163 Detail
0.001 Diabetes Mellitus, Non-Insulin-Dependent A combination of human leukocyte antigen DQB1*02 and the tumor necrosis factor a... BeFree 12788886 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent A combination of human leukocyte antigen DQB1*02 and the tumor necrosis factor a... BeFree 12788886 Detail
0.316 Diabetes Mellitus, Non-Insulin-Dependent A combination of human leukocyte antigen DQB1*02 and the tumor necrosis factor a... BeFree 12788886 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) AND not provided ClinVar Detail
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) AND Diabetes mellitus, permanent neonatal 4 ClinVar Detail
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common c... DisGeNET Detail
G308A polymorphism of TNF-alpha gene is associated with insulin resistance and histological changes ... DisGeNET Detail
A combination of human leukocyte antigen DQB1*02 and the tumor necrosis factor alpha promoter G308A ... DisGeNET Detail
A combination of human leukocyte antigen DQB1*02 and the tumor necrosis factor alpha promoter G308A ... DisGeNET Detail
A combination of human leukocyte antigen DQB1*02 and the tumor necrosis factor alpha promoter G308A ... 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
rs121908277 dbSNP
Genome
hg38
Position
chr11:2,159,877-2,159,877
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser