chr11:17417462:G>T Detail (hg19) (ABCC8)

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

Genome

Assembly	Position
hg19	chr11:17,417,462-17,417,462
hg38	chr11:17,395,915-17,395,915 View the variant detail on this assembly version.

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.4138C>A	NP_001274103.1:p.Arg1380Ser
	NM_000352.4:c.4135C>A	NP_000343.2:p.Arg1379Ser
Ensemble	ENST00000302539.9:c.4138C>A	ENST00000302539.9:p.Arg1380Ser
	ENST00000644772.1:c.4201C>A	ENST00000644772.1:p.Arg1401Ser
	ENST00000646902.1:c.4102C>A	ENST00000646902.1:p.Arg1368Ser
	ENST00000643260.1:c.4135C>A	ENST00000643260.1:p.Arg1379Ser
	ENST00000684571.1:c.3976C>A	ENST00000684571.1:p.Arg1326Ser
	ENST00000389817.8:c.4135C>A	ENST00000389817.8:p.Arg1379Ser
	ENST00000683136.1:c.4018C>A	ENST00000683136.1:p.Arg1340Ser
	ENST00000647015.1:c.3886C>A	ENST00000647015.1:p.Arg1296Ser
	ENST00000642271.1:c.4132C>A	ENST00000642271.1:p.Arg1378Ser

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

ABCC8

Type	Database	ID	Link
Gene	MIM	600509	OMIM
	HGNC	59	HGNC
	Ensembl	ENSG00000006071	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	2019-01-15	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2018-05-09	criteria provided, single submitter	Hyperinsulinemic hypoglycemia, familial, 1	unknown	Detail
Uncertain significance	2020-01-22	criteria provided, single submitter	Monogenic diabetes	germline	Detail
Uncertain significance	2020-04-07	no assertion criteria provided	Hereditary hyperinsulinism	germline	Detail
Uncertain significance	2024-01-02	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.133	Neonatal diabetes mellitus	NA	CLINVAR		Detail
0.440	DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)	NA	CLINVAR		Detail
0.315	Diabetes Mellitus, Non-Insulin-Dependent	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) AND not specified	ClinVar	Detail
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) AND Hyperinsulinemic hypoglycemia, familial, 1	ClinVar	Detail
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) AND Monogenic diabetes	ClinVar	Detail
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) AND Hereditary hyperinsulinism	ClinVar	Detail
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	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: rs137852673 dbSNP
Genome: hg19
Position: chr11:17,417,462-17,417,462
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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