chr11:2181113:G>C Detail (hg19) (INS, INS-IGF2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr11:2,181,113-2,181,113
hg38	chr11:2,159,883-2,159,883 View the variant detail on this assembly version.

HGVS

INS
INS-IGF2

Type	Transcript	Protein
RefSeq	NM_001185098.1:c.302C>G	NP_001172027.1:p.Ser101Cys
	NM_001291897.1:c.302C>G	NP_001278826.1:p.Ser101Cys
	NM_000207.2:c.302C>G	NP_000198.1:p.Ser101Cys
	NM_001185097.1:c.302C>G	NP_001172026.1:p.Ser101Cys
Ensemble	ENST00000397262.5:c.302C>G	ENST00000397262.5:p.Ser101Cys
	ENST00000381330.5:c.302C>G	ENST00000381330.5:p.Ser101Cys
	ENST00000250971.7:c.302C>G	ENST00000250971.7:p.Ser101Cys
	ENST00000512523.1:c.266C>G	ENST00000512523.1:p.Ser89Cys

Type	Transcript	Protein
RefSeq	NM_001042376.2:c.187+902C>G
Ensemble	ENST00000397270.1:c.187+902C>G

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	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
0.007	insulinoma	We examined the subcellular localization and secretion of 13 neonatal diabetes-a...	BeFree	20034470	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000207.3(INS):c.302C>G (p.Ser101Cys) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000207.3(INS):c.302C>G (p.Ser101Cys) 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
We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proi...	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: rs121908276 dbSNP
Genome: hg19
Position: chr11:2,181,113-2,181,113
Variant Type: snv
Reference Allele: G
Alternative Allele: C

Genome browser