chr11:2181165:C>T Detail (hg19) (INS, INS-IGF2)

Information

Genome

Assembly Position
hg19 chr11:2,181,165-2,181,165
hg38 chr11:2,159,935-2,159,935 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000207.2:c.250G>A NP_000198.1:p.Gly84Arg
NM_001185097.1:c.250G>A NP_001172026.1:p.Gly84Arg
NM_001185098.1:c.250G>A NP_001172027.1:p.Gly84Arg
Type Transcript Protein
RefSeq NM_001042376.2:c.187+850G>A
Ensemble ENST00000397270.1:c.187+850G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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
Uncertain significance criteria provided, single submitter Diabetes mellitus, permanent neonatal 4 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 insulinoma We examined the subcellular localization and secretion of 13 neonatal diabetes-a... BeFree 20034470 Detail
0.123 Hyperproinsulinemia These mutant proinsulin proteins accumulate in the endoplasmic reticulum (ER) an... BeFree 20034470 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000207.3(INS):c.250G>A (p.Gly84Arg) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000207.3(INS):c.250G>A (p.Gly84Arg) AND Diabetes mellitus, permanent neonatal 4 ClinVar Detail
We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proi... DisGeNET Detail
These mutant proinsulin proteins accumulate in the endoplasmic reticulum (ER) and are poorly secrete... 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
rs121908274 dbSNP
Genome
hg19
Position
chr11:2,181,165-2,181,165
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser