chr11:17483278:A>G 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	chr11:17,483,278-17,483,278
hg38	chr11:17,461,731-17,461,731 View the variant detail on this assembly version.

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.674T>C	NP_001274103.1:p.Leu225Pro
	NM_000352.4:c.674T>C	NP_000343.2:p.Leu225Pro
Ensemble	ENST00000302539.9:c.674T>C	ENST00000302539.9:p.Leu225Pro
	ENST00000644772.1:c.674T>C	ENST00000644772.1:p.Leu225Pro
	ENST00000646902.1:c.674T>C	ENST00000646902.1:p.Leu225Pro
	ENST00000643260.1:c.674T>C	ENST00000643260.1:p.Leu225Pro
	ENST00000684571.1:c.674T>C	ENST00000684571.1:p.Leu225Pro
	ENST00000389817.8:c.674T>C	ENST00000389817.8:p.Leu225Pro
	ENST00000683136.1:c.674T>C	ENST00000683136.1:p.Leu225Pro
	ENST00000647015.1:c.674T>C	ENST00000647015.1:p.Leu225Pro
	ENST00000642271.1:c.674T>C	ENST00000642271.1:p.Leu225Pro

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

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
not provided		no assertion provided	permanent neonatal diabetes mellitus	unknown	Detail
Likely pathogenic		criteria provided, single submitter	Neonatal diabetes mellitus	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.484	DIABETES MELLITUS, PERMANENT NEONATAL	A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes perma...	BeFree	17317760	Detail
0.484	DIABETES MELLITUS, PERMANENT NEONATAL	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) AND Neonatal diabetes mellitus	ClinVar	Detail
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabet...	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: rs1048095 dbSNP
Genome: hg19
Position: chr11:17,483,278-17,483,278
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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