chr11:17415288: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	chr11:17,415,288-17,415,288
hg38	chr11:17,393,741-17,393,741 View the variant detail on this assembly version.

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_000352.4:c.4564G>A	NP_000343.2:p.Val1522Met
	NM_001287174.1:c.4567G>A	NP_001274103.1:p.Val1523Met
Ensemble	ENST00000684571.1:c.4405G>A	ENST00000684571.1:p.Val1469Met
	ENST00000389817.8:c.4564G>A	ENST00000389817.8:p.Val1522Met
	ENST00000643260.1:c.4564G>A	ENST00000643260.1:p.Val1522Met
	ENST00000644772.1:c.4630G>A	ENST00000644772.1:p.Val1544Met
	ENST00000646902.1:c.4531G>A	ENST00000646902.1:p.Val1511Met
	ENST00000302539.9:c.4567G>A	ENST00000302539.9:p.Val1523Met
	ENST00000642271.1:c.4561G>A	ENST00000642271.1:p.Val1521Met
	ENST00000647015.1:c.4315G>A	ENST00000647015.1:p.Val1439Met
	ENST00000683136.1:c.4447G>A	ENST00000683136.1:p.Val1483Met

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
Likely pathogenic	2011-08-18	criteria provided, single submitter	Neonatal diabetes mellitus	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.133	Neonatal diabetes mellitus	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met) AND Neonatal diabetes mellitus	ClinVar	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: rs193922407 dbSNP
Genome: hg19
Position: chr11:17,415,288-17,415,288
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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