chr11:17410501:C>T Detail (hg38) (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	chr11:17,432,048-17,432,048 View the variant detail on this assembly version.
hg38	chr11:17,410,501-17,410,501

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.2697+15G>A
	NM_000352.4:c.2694+15G>A
Ensemble	ENST00000302539.9:c.2697+15G>A
	ENST00000389817.8:c.2694+15G>A
	ENST00000642271.1:c.2691+15G>A
	ENST00000643260.1:c.2694+15G>A
	ENST00000644772.1:c.2760+15G>A
	ENST00000646902.1:c.2691+15G>A
	ENST00000647015.1:c.2445+15G>A
	ENST00000683136.1:c.2691+15G>A
	ENST00000684571.1:c.2535+15G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

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	2018-01-12	criteria provided, single submitter	Diabetes mellitus, transient neonatal, 2	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	Hyperinsulinemic hypoglycemia, familial, 1	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	permanent neonatal diabetes mellitus	germline	Detail
Uncertain significance		criteria provided, single submitter	Maturity onset diabetes mellitus in young	unknown	Detail
Uncertain significance		criteria provided, single submitter	Transitory neonatal diabetes mellitus	unknown	Detail
Likely benign	2024-01-22	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.2694+15G>A AND Diabetes mellitus, transient neonatal, 2	ClinVar	Detail
NM_000352.6(ABCC8):c.2694+15G>A AND Hyperinsulinemic hypoglycemia, familial, 1	ClinVar	Detail
NM_000352.6(ABCC8):c.2694+15G>A AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.2694+15G>A AND Maturity onset diabetes mellitus in young	ClinVar	Detail
NM_000352.6(ABCC8):c.2694+15G>A AND Transitory neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.2694+15G>A AND not provided	ClinVar	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs886048051 dbSNP
Genome: hg38
Position: chr11:17,410,501-17,410,501
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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