chr11:17426062:G>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	chr11:17,426,062-17,426,062
hg38	chr11:17,404,515-17,404,515 View the variant detail on this assembly version.

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_000352.4:c.3554C>A	NP_000343.2:p.Ser1185Tyr
	NM_001287174.1:c.3557C>A	NP_001274103.1:p.Ser1186Tyr
Ensemble	ENST00000643260.1:c.3554C>A	ENST00000643260.1:p.Ser1185Tyr
	ENST00000684571.1:c.3395C>A	ENST00000684571.1:p.Ser1132Tyr
	ENST00000389817.8:c.3554C>A	ENST00000389817.8:p.Ser1185Tyr
	ENST00000302539.9:c.3557C>A	ENST00000302539.9:p.Ser1186Tyr
	ENST00000644772.1:c.3620C>A	ENST00000644772.1:p.Ser1207Tyr
	ENST00000646902.1:c.3551C>A	ENST00000646902.1:p.Ser1184Tyr
	ENST00000642271.1:c.3551C>A	ENST00000642271.1:p.Ser1184Tyr
	ENST00000683136.1:c.3551C>A	ENST00000683136.1:p.Ser1184Tyr
	ENST00000647015.1:c.3305C>A	ENST00000647015.1:p.Ser1102Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
Pathogenic	2007-08-01	no assertion criteria provided	Diabetes mellitus, permanent neonatal 3	germline	Detail
Uncertain significance		criteria provided, single submitter	Maturity onset diabetes mellitus in young	somatic	Detail
Uncertain significance		criteria provided, single submitter	Transitory neonatal diabetes mellitus	somatic	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.3554C>A (p.Ser1185Tyr) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) AND Diabetes mellitus, permanent neonatal 3	ClinVar	Detail
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) AND Maturity onset diabetes mellitus in young	ClinVar	Detail
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) AND Transitory 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: rs193929369 dbSNP
Genome: hg19
Position: chr11:17,426,062-17,426,062
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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