chr11:17393122:C>T Detail (hg38) (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	chr11:17,414,669-17,414,669 View the variant detail on this assembly version.
hg38	chr11:17,393,122-17,393,122

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.4618G>A	NP_001274103.1:p.Val1540Met
	NM_000352.4:c.4615G>A	NP_000343.2:p.Val1539Met
Ensemble	ENST00000302539.9:c.4618G>A	ENST00000302539.9:p.Val1540Met
	ENST00000389817.8:c.4615G>A	ENST00000389817.8:p.Val1539Met
	ENST00000642271.1:c.4612G>A	ENST00000642271.1:p.Val1538Met
	ENST00000643260.1:c.4615G>A	ENST00000643260.1:p.Val1539Met
	ENST00000644772.1:c.4681G>A	ENST00000644772.1:p.Val1561Met
	ENST00000646902.1:c.4582G>A	ENST00000646902.1:p.Val1528Met
	ENST00000647015.1:c.4366G>A	ENST00000647015.1:p.Val1456Met
	ENST00000683136.1:c.4498G>A	ENST00000683136.1:p.Val1500Met
	ENST00000684571.1:c.4456G>A	ENST00000684571.1:p.Val1486Met

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
no classifications from unflagged records	2023-04-24	no classifications from unflagged records	permanent neonatal diabetes mellitus	germline	Detail
Uncertain significance	2017-09-19	no assertion criteria provided	Hyperinsulinemic hypoglycemia, familial, 1	unknown	Detail
Uncertain significance	2022-02-05	criteria provided, multiple submitters, no conflicts	not provided	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
Uncertain significance	2023-05-04	criteria provided, single submitter	not specified	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.4615G>A (p.Val1539Met) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) AND Hyperinsulinemic hypoglycemia, familial, 1	ClinVar	Detail
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) AND not provided	ClinVar	Detail
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) AND Maturity onset diabetes mellitus in young	ClinVar	Detail
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) AND Transitory neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) AND not specified	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: rs193922408 dbSNP
Genome: hg38
Position: chr11:17,393,122-17,393,122
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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