chr11:2182049:T>C Detail (hg19) (INS, INS-IGF2)

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

Information

Genome

Assembly	Position
hg19	chr11:2,182,049-2,182,049
hg38	chr11:2,160,819-2,160,819 View the variant detail on this assembly version.

HGVS

INS
INS-IGF2

Type	Transcript	Protein
RefSeq	NM_000207.2:c.153A>G	NP_000198.1:p.Thr51=
	NM_001185097.1:c.153A>G	NP_001172026.1:p.Thr51=
	NM_001185098.1:c.153A>G	NP_001172027.1:p.Thr51=
	NM_001291897.1:c.153A>G	NP_001278826.1:p.Thr51=
Ensemble	ENST00000512523.1:c.153A>G	ENST00000512523.1:p.Thr51=
	ENST00000250971.7:c.153A>G	ENST00000250971.7:p.Thr51=
	ENST00000397262.5:c.153A>G	ENST00000397262.5:p.Thr51=
	ENST00000381330.5:c.153A>G	ENST00000381330.5:p.Thr51=

Type	Transcript	Protein
RefSeq	NM_001042376.2:c.153A>G	NP_001035835.1:p.Thr51=
Ensemble	ENST00000397270.1:c.153A>G	ENST00000397270.1:p.Thr51=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Uncertain significance	2017-04-27	criteria provided, single submitter	Transient Neonatal Diabetes, Dominant/Recessive	germline	Detail
Likely benign	2017-09-29	criteria provided, single submitter	maturity-onset diabetes of the young type 10	germline	Detail
Uncertain significance	2020-04-06	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000207.3(INS):c.153A>G (p.Thr51=) AND Transient Neonatal Diabetes, Dominant/Recessive	ClinVar	Detail
NM_000207.3(INS):c.153A>G (p.Thr51=) AND Maturity-onset diabetes of the young type 10	ClinVar	Detail
NM_000207.3(INS):c.153A>G (p.Thr51=) AND not specified	ClinVar	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: rs773789432 dbSNP
Genome: hg19
Position: chr11:2,182,049-2,182,049
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8630
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 119742
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6702577207663143E-5

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