chr11:2181128:C>G Detail (hg19) (INS, INS-IGF2)

Information

Genome

Assembly Position
hg19 chr11:2,181,128-2,181,128
hg38 chr11:2,159,898-2,159,898 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001185098.1:c.287G>C NP_001172027.1:p.Cys96Ser
NM_001291897.1:c.287G>C NP_001278826.1:p.Cys96Ser
NM_000207.2:c.287G>C NP_000198.1:p.Cys96Ser
Type Transcript Protein
RefSeq NM_001042376.2:c.187+887G>C
Ensemble ENST00000397270.1:c.187+887G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
not provided no assertion provided permanent neonatal diabetes mellitus not provided 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
0.007 insulinoma We examined the subcellular localization and secretion of 13 neonatal diabetes-a... BeFree 20034470 Detail
0.568 DIABETES MELLITUS, PERMANENT NEONATAL Insulin gene mutations as a cause of permanent neonatal diabetes. UNIPROT 17855560 Detail
0.568 DIABETES MELLITUS, PERMANENT NEONATAL Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the ... BeFree 18981553 Detail
0.020 Neonatal diabetes mellitus The approach involves the transgenic expression of a misfolded mutant of human p... BeFree 24281154 Detail
0.295 diabetes mellitus Thus, Munich Ins2(C95S) mutant mice are considered a valuable model to study the... BeFree 17303807 Detail
0.020 Neonatal diabetes mellitus Akita mice, which harbor a human permanent neonatal diabetes-linked mutation (Cy... BeFree 23416061 Detail
0.274 hyperglycemia The Akita mouse with a missense mutation (Cys96Tyr) in the insulin 2 gene has hy... BeFree 14610263 Detail
0.080 Diabetes Thus, Munich Ins2(C95S) mutant mice are considered a valuable model to study the... BeFree 17303807 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000207.3(INS):c.287G>C (p.Cys96Ser) AND Permanent neonatal diabetes mellitus ClinVar Detail
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common c... DisGeNET Detail
We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proi... DisGeNET Detail
Insulin gene mutations as a cause of permanent neonatal diabetes. DisGeNET Detail
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case... DisGeNET Detail
The approach involves the transgenic expression of a misfolded mutant of human preproinsulin, hINS(C... DisGeNET Detail
Thus, Munich Ins2(C95S) mutant mice are considered a valuable model to study the mechanisms of beta-... DisGeNET Detail
Akita mice, which harbor a human permanent neonatal diabetes-linked mutation (Cys96Tyr) in the insul... DisGeNET Detail
The Akita mouse with a missense mutation (Cys96Tyr) in the insulin 2 gene has hyperglycemia and a re... DisGeNET Detail
Thus, Munich Ins2(C95S) mutant mice are considered a valuable model to study the mechanisms of beta-... 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
rs80356671 dbSNP
Genome
hg19
Position
chr11:2,181,128-2,181,128
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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