chr11:17426071:C>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	chr11:17,426,071-17,426,071
hg38	chr11:17,404,524-17,404,524 View the variant detail on this assembly version.

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_000352.4:c.3545G>A	NP_000343.2:p.Arg1182Gln
	NM_001287174.1:c.3548G>A	NP_001274103.1:p.Arg1183Gln
Ensemble	ENST00000684571.1:c.3386G>A	ENST00000684571.1:p.Arg1129Gln
	ENST00000389817.8:c.3545G>A	ENST00000389817.8:p.Arg1182Gln
	ENST00000643260.1:c.3545G>A	ENST00000643260.1:p.Arg1182Gln
	ENST00000644772.1:c.3611G>A	ENST00000644772.1:p.Arg1204Gln
	ENST00000646902.1:c.3542G>A	ENST00000646902.1:p.Arg1181Gln
	ENST00000302539.9:c.3548G>A	ENST00000302539.9:p.Arg1183Gln
	ENST00000642271.1:c.3542G>A	ENST00000642271.1:p.Arg1181Gln
	ENST00000647015.1:c.3296G>A	ENST00000647015.1:p.Arg1099Gln
	ENST00000683136.1:c.3542G>A	ENST00000683136.1:p.Arg1181Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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
Likely pathogenic	2011-08-18	criteria provided, single submitter	Neonatal diabetes mellitus	germline	Detail
Pathogenic	2019-06-17	no assertion criteria provided	Diabetes mellitus, transient neonatal, 2	germline	Detail
Pathogenic Likely pathogenic	2024-01-25	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2024-03-25	criteria provided, single submitter	Hyperinsulinemic hypoglycemia, familial, 1	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

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) AND Neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) AND Diabetes mellitus, transient neonatal, 2	ClinVar	Detail
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) AND not provided	ClinVar	Detail
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) AND Hyperinsulinemic hypoglycemia, familial, 1	ClinVar	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: rs193922400 dbSNP
Genome: hg19
Position: chr11:17,426,071-17,426,071
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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