chr11:119100396:T>C Detail (hg38) (DPAGT1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:118,971,106-118,971,106 View the variant detail on this assembly version.
hg38	chr11:119,100,396-119,100,396

HGVS

DPAGT1

Type	Transcript	Protein
RefSeq	NM_001382.3:c.509A>G	NP_001373.2:p.Tyr170Cys
Ensemble	ENST00000354202.9:c.509A>G	ENST00000354202.9:p.Tyr170Cys
	ENST00000409993.6:c.509A>G	ENST00000409993.6:p.Tyr170Cys
	ENST00000639704.1:c.416A>G	ENST00000639704.1:p.Tyr139Cys
	ENST00000682791.1:c.422A>G	ENST00000682791.1:p.Tyr141Cys

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	Conflicting classifications of pathogenicity
Review star
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Links

DPAGT1

Type	Database	ID	Link
Gene	MIM	191350	OMIM
	HGNC	2995	HGNC
	Ensembl	ENSG00000172269	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv375965626	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-08-01	no assertion criteria provided	DPAGT1-congenital disorder of glycosylation	germline	Detail
Uncertain significance	2022-08-15	criteria provided, single submitter	congenital myasthenic syndrome 13,DPAGT1-congenital disorder of glycosylation	germline	Detail
Uncertain significance	2022-08-15	criteria provided, single submitter	congenital myasthenic syndrome 13,DPAGT1-congenital disorder of glycosylation	germline	Detail
Likely pathogenic		no assertion criteria provided	congenital disorder of glycosylation	inherited	Detail
Likely pathogenic	2021-01-21	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	Congenital disorder of glycosylation type 1J	Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Tran...	UNIPROT	12872255	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) AND DPAGT1-congenital disorder of glycosylation	ClinVar	Detail
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) AND multiple conditions	ClinVar	Detail
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) AND multiple conditions	ClinVar	Detail
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) AND Congenital disorder of glycosylation	ClinVar	Detail
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) AND not provided	ClinVar	Detail
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) cau...	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: rs28934876 dbSNP
Genome: hg38
Position: chr11:119,100,396-119,100,396
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8650
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): 121170
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): 8.252867871585376E-6

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