chr11:17470119:A>G 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	chr11:17,491,666-17,491,666 View the variant detail on this assembly version.
hg38	chr11:17,470,119-17,470,119

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.394T>C	NP_001274103.1:p.Phe132Leu
	NM_000352.4:c.394T>C	NP_000343.2:p.Phe132Leu
Ensemble	ENST00000302539.9:c.394T>C	ENST00000302539.9:p.Phe132Leu
	ENST00000389817.8:c.394T>C	ENST00000389817.8:p.Phe132Leu
	ENST00000642271.1:c.394T>C	ENST00000642271.1:p.Phe132Leu
	ENST00000643260.1:c.394T>C	ENST00000643260.1:p.Phe132Leu
	ENST00000644772.1:c.394T>C	ENST00000644772.1:p.Phe132Leu
	ENST00000646902.1:c.394T>C	ENST00000646902.1:p.Phe132Leu
	ENST00000647015.1:c.394T>C	ENST00000647015.1:p.Phe132Leu
	ENST00000683136.1:c.394T>C	ENST00000683136.1:p.Phe132Leu
	ENST00000684571.1:c.394T>C	ENST00000684571.1:p.Phe132Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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
Pathogenic	2006-06-01	no assertion criteria provided	Diabetes mellitus, permanent neonatal 3	germline	Detail
not provided		no assertion provided	permanent neonatal diabetes mellitus	unknown	Detail
Pathogenic	2021-01-19	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic		criteria provided, single submitter	Neonatal diabetes mellitus	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.133	Neonatal diabetes mellitus	NA	CLINVAR		Detail
0.484	DIABETES MELLITUS, PERMANENT NEONATAL	NA	CLINVAR		Detail
0.120	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	NA	CLINVAR		Detail
0.001	Developmental Delay, Epilepsy, and Neonatal Diabetes	We identified a novel heterozygous mutation, F132L, in the ABCC8 gene of a patie...	BeFree	16613899	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) AND Diabetes mellitus, permanent neonatal 3	ClinVar	Detail
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) AND not provided	ClinVar	Detail
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) AND Neonatal diabetes mellitus	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We identified a novel heterozygous mutation, F132L, in the ABCC8 gene of a patient with severe devel...	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: rs80356637 dbSNP
Genome: hg38
Position: chr11:17,470,119-17,470,119
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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