chr11:17393752:A>C Detail (hg38) (ABCC8)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr11:17,415,299-17,415,299 View the variant detail on this assembly version.
hg38	chr11:17,393,752-17,393,752

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.4556T>G	NP_001274103.1:p.Ile1519Ser
	NM_000352.4:c.4553T>G	NP_000343.2:p.Ile1518Ser
Ensemble	ENST00000302539.9:c.4556T>G	ENST00000302539.9:p.Ile1519Ser
	ENST00000389817.8:c.4553T>G	ENST00000389817.8:p.Ile1518Ser
	ENST00000642271.1:c.4550T>G	ENST00000642271.1:p.Ile1517Ser
	ENST00000643260.1:c.4553T>G	ENST00000643260.1:p.Ile1518Ser
	ENST00000644772.1:c.4619T>G	ENST00000644772.1:p.Ile1540Ser
	ENST00000646902.1:c.4520T>G	ENST00000646902.1:p.Ile1507Ser
	ENST00000647015.1:c.4304T>G	ENST00000647015.1:p.Ile1435Ser
	ENST00000683136.1:c.4436T>G	ENST00000683136.1:p.Ile1479Ser
	ENST00000684571.1:c.4394T>G	ENST00000684571.1:p.Ile1465Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Likely pathogenic	2011-08-18	criteria provided, single submitter	Neonatal diabetes mellitus	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
0.133	Neonatal diabetes mellitus	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser) AND Neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser) AND Maturity onset diabetes mellitus in young	ClinVar	Detail
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser) 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: rs193922406 dbSNP
Genome: hg38
Position: chr11:17,393,752-17,393,752
Variant Type: snv
Reference Allele: A
Alternative Allele: C

Genome browser