chr11:17395647:T>C Detail (hg38) (ABCC8)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr11:17,417,194-17,417,194 View the variant detail on this assembly version.
hg38	chr11:17,395,647-17,395,647

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.4273A>G	NP_001274103.1:p.Ile1425Val
	NM_000352.4:c.4270A>G	NP_000343.2:p.Ile1424Val
Ensemble	ENST00000302539.9:c.4273A>G	ENST00000302539.9:p.Ile1425Val
	ENST00000389817.8:c.4270A>G	ENST00000389817.8:p.Ile1424Val
	ENST00000642271.1:c.4267A>G	ENST00000642271.1:p.Ile1423Val
	ENST00000643260.1:c.4270A>G	ENST00000643260.1:p.Ile1424Val
	ENST00000644772.1:c.4336A>G	ENST00000644772.1:p.Ile1446Val
	ENST00000646902.1:c.4237A>G	ENST00000646902.1:p.Ile1413Val
	ENST00000647015.1:c.4021A>G	ENST00000647015.1:p.Ile1341Val
	ENST00000683136.1:c.4153A>G	ENST00000683136.1:p.Ile1385Val
	ENST00000684571.1:c.4111A>G	ENST00000684571.1:p.Ile1371Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
not provided		no assertion provided	permanent neonatal diabetes mellitus	unknown	Detail
Pathogenic	2006-08-03	no assertion criteria provided	Diabetes mellitus, permanent neonatal 3	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.484	DIABETES MELLITUS, PERMANENT NEONATAL	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val) AND Diabetes mellitus, permanent neonatal 3	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: rs80356653 dbSNP
Genome: hg38
Position: chr11:17,395,647-17,395,647
Variant Type: snv
Reference Allele: T
Alternative Allele: C

Genome browser