chr11:17464281:T>C 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	chr11:17,464,281-17,464,281
hg38	chr11:17,442,734-17,442,734 View the variant detail on this assembly version.

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.1616A>G	NP_001274103.1:p.Tyr539Cys
	NM_000352.4:c.1616A>G	NP_000343.2:p.Tyr539Cys
Ensemble	ENST00000683136.1:c.1613A>G	ENST00000683136.1:p.Tyr538Cys
	ENST00000647015.1:c.1616A>G	ENST00000647015.1:p.Tyr539Cys
	ENST00000642271.1:c.1613A>G	ENST00000642271.1:p.Tyr538Cys
	ENST00000302539.9:c.1616A>G	ENST00000302539.9:p.Tyr539Cys
	ENST00000644772.1:c.1616A>G	ENST00000644772.1:p.Tyr539Cys
	ENST00000646902.1:c.1613A>G	ENST00000646902.1:p.Tyr538Cys
	ENST00000643260.1:c.1613A>G	ENST00000643260.1:p.Tyr538Cys
	ENST00000684571.1:c.1457A>G	ENST00000684571.1:p.Tyr486Cys
	ENST00000389817.8:c.1616A>G	ENST00000389817.8:p.Tyr539Cys

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
Uncertain significance		criteria provided, single submitter	Diabetes mellitus, transient neonatal, 2	germline	Detail
Conflicting interpretations of pathogenicity	2023-05-04	criteria provided, conflicting interpretations	Maturity onset diabetes mellitus in young	germline unknown	Detail
Uncertain significance		criteria provided, single submitter	Transitory neonatal diabetes mellitus	unknown	Detail
Uncertain significance	2023-01-30	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

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) AND Diabetes mellitus, transient neonatal, 2	ClinVar	Detail
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) AND Maturity onset diabetes mellitus in young	ClinVar	Detail
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) AND Transitory neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) AND not provided	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: rs193922397 dbSNP
Genome: hg19
Position: chr11:17,464,281-17,464,281
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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