chr11:118971106:T>C Detail (hg19) (DPAGT1)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_001382.3:c.509A>G NP_001373.2:p.Tyr170Cys
Ensemble ENST00000409993.6:c.509A>G ENST00000409993.6:p.Tyr170Cys
ENST00000354202.9:c.509A>G ENST00000354202.9:p.Tyr170Cys
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
Show details
Links
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
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

DescrptionSourceLinks
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
hg19
Position
chr11:118,971,106-118,971,106
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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