chr11:17417462:G>A Detail (hg19) (ABCC8)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr11:17,417,462-17,417,462
hg38	chr11:17,395,915-17,395,915 View the variant detail on this assembly version.

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.4138C>T	NP_001274103.1:p.Arg1380Cys
	NM_000352.4:c.4135C>T	NP_000343.2:p.Arg1379Cys
Ensemble	ENST00000647015.1:c.3886C>T	ENST00000647015.1:p.Arg1296Cys
	ENST00000642271.1:c.4132C>T	ENST00000642271.1:p.Arg1378Cys
	ENST00000302539.9:c.4138C>T	ENST00000302539.9:p.Arg1380Cys
	ENST00000644772.1:c.4201C>T	ENST00000644772.1:p.Arg1401Cys
	ENST00000646902.1:c.4102C>T	ENST00000646902.1:p.Arg1368Cys
	ENST00000643260.1:c.4135C>T	ENST00000643260.1:p.Arg1379Cys
	ENST00000684571.1:c.3976C>T	ENST00000684571.1:p.Arg1326Cys
	ENST00000389817.8:c.4135C>T	ENST00000389817.8:p.Arg1379Cys
	ENST00000683136.1:c.4018C>T	ENST00000683136.1:p.Arg1340Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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	COSM3445810	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2007-11-27	no assertion criteria provided	Diabetes mellitus, transient neonatal, 2	germline	Detail
Pathogenic	2007-11-27	no assertion criteria provided	type 2 diabetes mellitus	germline	Detail
Pathogenic	2016-03-01	criteria provided, single submitter	permanent neonatal diabetes mellitus	germline	Detail
Likely pathogenic	2020-01-22	criteria provided, single submitter	Monogenic diabetes	germline	Detail
Pathogenic	2022-03-24	criteria provided, single submitter	not provided	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
0.315	Diabetes Mellitus, Non-Insulin-Dependent	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) AND Diabetes mellitus, transient neonatal, 2	ClinVar	Detail
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) AND Type 2 diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) AND Monogenic diabetes	ClinVar	Detail
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) AND not provided	ClinVar	Detail
NA	DisGeNET	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: rs137852673 dbSNP
Genome: hg19
Position: chr11:17,417,462-17,417,462
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 2736
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 37546
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.6633995632024715E-5

Genome browser