chr11:17426071:C>A 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	chr11:17,426,071-17,426,071
hg38	chr11:17,404,524-17,404,524 View the variant detail on this assembly version.

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.3548G>T	NP_001274103.1:p.Arg1183Leu
	NM_000352.4:c.3545G>T	NP_000343.2:p.Arg1182Leu
Ensemble	ENST00000683136.1:c.3542G>T	ENST00000683136.1:p.Arg1181Leu
	ENST00000647015.1:c.3296G>T	ENST00000647015.1:p.Arg1099Leu
	ENST00000642271.1:c.3542G>T	ENST00000642271.1:p.Arg1181Leu
	ENST00000302539.9:c.3548G>T	ENST00000302539.9:p.Arg1183Leu
	ENST00000646902.1:c.3542G>T	ENST00000646902.1:p.Arg1181Leu
	ENST00000644772.1:c.3611G>T	ENST00000644772.1:p.Arg1204Leu
	ENST00000643260.1:c.3545G>T	ENST00000643260.1:p.Arg1182Leu
	ENST00000389817.8:c.3545G>T	ENST00000389817.8:p.Arg1182Leu
	ENST00000684571.1:c.3386G>T	ENST00000684571.1:p.Arg1129Leu

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	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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-09-03	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

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.3545G>T (p.Arg1182Leu) AND not provided	ClinVar	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: -
Genome: hg19
Position: chr11:17,426,071-17,426,071
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
Chromosome Counts in All Race (ExAC): 121256
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): 8.247014580721778E-6

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