chr11:2160901:G>A 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	chr11:2,182,131-2,182,131 View the variant detail on this assembly version.
hg38	chr11:2,160,901-2,160,901

HGVS

INS
INS-IGF2

Type	Transcript	Protein
RefSeq	NM_000207.2:c.71C>T	NP_000198.1:p.Ala24Val
	NM_001185097.1:c.71C>T	NP_001172026.1:p.Ala24Val
	NM_001185098.1:c.71C>T	NP_001172027.1:p.Ala24Val
	NM_001291897.1:c.71C>T	NP_001278826.1:p.Ala24Val
Ensemble	ENST00000250971.7:c.71C>T	ENST00000250971.7:p.Ala24Val
	ENST00000381330.5:c.71C>T	ENST00000381330.5:p.Ala24Val
	ENST00000397262.5:c.71C>T	ENST00000397262.5:p.Ala24Val
	ENST00000512523.1:c.71C>T	ENST00000512523.1:p.Ala24Val

Type	Transcript	Protein
RefSeq	NM_001042376.2:c.71C>T	NP_001035835.1:p.Ala24Val
Ensemble	ENST00000397270.1:c.71C>T	ENST00000397270.1:p.Ala24Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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
	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
Likely pathogenic	2011-08-18	criteria provided, single submitter	Neonatal diabetes mellitus	germline	Detail
Likely pathogenic	2019-09-09	criteria provided, single submitter	not provided	germline	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
<0.001	Lesion of brain	In this report we present a family with permanent neonatal diabetes, heterozygou...	BeFree	25765664	Detail
0.568	DIABETES MELLITUS, PERMANENT NEONATAL	Insulin gene mutations as a cause of permanent neonatal diabetes.	UNIPROT	17855560	Detail
0.007	Ketosis	In this report we present a family with permanent neonatal diabetes, heterozygou...	BeFree	25765664	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000207.3(INS):c.71C>T (p.Ala24Val) AND Neonatal diabetes mellitus	ClinVar	Detail
NM_000207.3(INS):c.71C>T (p.Ala24Val) AND not provided	ClinVar	Detail
We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proi...	DisGeNET	Detail
In this report we present a family with permanent neonatal diabetes, heterozygous for a novel INS ge...	DisGeNET	Detail
Insulin gene mutations as a cause of permanent neonatal diabetes.	DisGeNET	Detail
In this report we present a family with permanent neonatal diabetes, heterozygous for a novel INS ge...	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: rs80356663 dbSNP
Genome: hg38
Position: chr11:2,160,901-2,160,901
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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