chr11:17404552: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	chr11:17,426,099-17,426,099 View the variant detail on this assembly version.
hg38	chr11:17,404,552-17,404,552

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.3520G>A	NP_001274103.1:p.Val1174Met
	NM_000352.4:c.3517G>A	NP_000343.2:p.Val1173Met
Ensemble	ENST00000302539.9:c.3520G>A	ENST00000302539.9:p.Val1174Met
	ENST00000389817.8:c.3517G>A	ENST00000389817.8:p.Val1173Met
	ENST00000642271.1:c.3514G>A	ENST00000642271.1:p.Val1172Met
	ENST00000643260.1:c.3517G>A	ENST00000643260.1:p.Val1173Met
	ENST00000644772.1:c.3583G>A	ENST00000644772.1:p.Val1195Met
	ENST00000646902.1:c.3514G>A	ENST00000646902.1:p.Val1172Met
	ENST00000647015.1:c.3268G>A	ENST00000647015.1:p.Val1090Met
	ENST00000683136.1:c.3514G>A	ENST00000683136.1:p.Val1172Met
	ENST00000684571.1:c.3358G>A	ENST00000684571.1:p.Val1120Met

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	Uncertain significance
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	tgv216387879	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	2023-10-31	no classifications from unflagged records	Atrial septal defect,Macrocephaly,Growth delay	unknown	Detail
no classifications from unflagged records	2023-10-31	no classifications from unflagged records	Atrial septal defect,Macrocephaly,Growth delay	unknown	Detail
no classifications from unflagged records	2023-10-31	no classifications from unflagged records	Atrial septal defect,Macrocephaly,Growth delay	unknown	Detail
Uncertain significance	2018-10-24	criteria provided, single submitter	permanent neonatal diabetes mellitus	unknown	Detail
Uncertain significance	2020-01-22	criteria provided, single submitter	Monogenic diabetes	germline	Detail
Uncertain significance		no assertion criteria provided	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
Uncertain significance	2022-11-10	criteria provided, single submitter	Inborn genetic diseases	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.3517G>A (p.Val1173Met) AND multiple conditions	ClinVar	Detail
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) AND multiple conditions	ClinVar	Detail
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) AND multiple conditions	ClinVar	Detail
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) AND Monogenic diabetes	ClinVar	Detail
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) AND not provided	ClinVar	Detail
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) AND Maturity onset diabetes mellitus in young	ClinVar	Detail
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) AND Transitory neonatal diabetes mellitus	ClinVar	Detail
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) AND not specified	ClinVar	Detail
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) AND Inborn genetic diseases	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: rs141322087 dbSNP
Genome: hg38
Position: chr11:17,404,552-17,404,552
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121236
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6496750140222375E-5

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