chr11:2159935:C>T Detail (hg38) (INS, INS-IGF2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

INS
INS-IGF2

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
	NM_001291897.1:c.250G>A	NP_001278826.1:p.Gly84Arg
Ensemble	ENST00000250971.7:c.250G>A	ENST00000250971.7:p.Gly84Arg
	ENST00000381330.5:c.250G>A	ENST00000381330.5:p.Gly84Arg
	ENST00000397262.5:c.250G>A	ENST00000397262.5:p.Gly84Arg
	ENST00000512523.1:c.214G>A	ENST00000512523.1:p.Gly72Arg

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
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Links

INS
INS-IGF2

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	tgv41352770	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	tgv41352770	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

Descrption	Source	Links
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: hg38
Position: chr11:2,159,935-2,159,935
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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