chr11:2182075:A>C Detail (hg19) (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	chr11:2,182,075-2,182,075
hg38	chr11:2,160,845-2,160,845 View the variant detail on this assembly version.

HGVS

INS
INS-IGF2

Type	Transcript	Protein
RefSeq	NM_000207.2:c.127T>G	NP_000198.1:p.Cys43Gly
	NM_001185097.1:c.127T>G	NP_001172026.1:p.Cys43Gly
	NM_001185098.1:c.127T>G	NP_001172027.1:p.Cys43Gly
	NM_001291897.1:c.127T>G	NP_001278826.1:p.Cys43Gly
Ensemble	ENST00000512523.1:c.127T>G	ENST00000512523.1:p.Cys43Gly
	ENST00000250971.7:c.127T>G	ENST00000250971.7:p.Cys43Gly
	ENST00000381330.5:c.127T>G	ENST00000381330.5:p.Cys43Gly
	ENST00000397262.5:c.127T>G	ENST00000397262.5:p.Cys43Gly

Type	Transcript	Protein
RefSeq	NM_001042376.2:c.127T>G	NP_001035835.1:p.Cys43Gly
Ensemble	ENST00000397270.1:c.127T>G	ENST00000397270.1:p.Cys43Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely risk allele
Review star
Show details

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
	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 unknown	Detail
not provided	2015-10-02	no assertion provided	Neonatal diabetes mellitus	germline	Detail
Pathogenic	2007-09-18	no assertion criteria provided	Diabetes mellitus, permanent neonatal 4	germline	Detail
Likely risk allele		criteria provided, single submitter	type 2 diabetes mellitus	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
0.568	DIABETES MELLITUS, PERMANENT NEONATAL	Insulin gene mutations as a cause of permanent neonatal diabetes.	UNIPROT	17855560	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000207.3(INS):c.127T>G (p.Cys43Gly) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000207.3(INS):c.127T>G (p.Cys43Gly) AND Neonatal diabetes mellitus	ClinVar	Detail
NM_000207.3(INS):c.127T>G (p.Cys43Gly) AND Diabetes mellitus, permanent neonatal 4	ClinVar	Detail
NM_000207.3(INS):c.127T>G (p.Cys43Gly) AND Type 2 diabetes mellitus	ClinVar	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

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: rs80356666 dbSNP
Genome: hg19
Position: chr11:2,182,075-2,182,075
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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