chr17:80104542:T>G Detail (hg38) (GAA)

Information

Genome

Assembly Position
hg19 chr17:78,078,341-78,078,341 View the variant detail on this assembly version.
hg38 chr17:80,104,542-80,104,542

HGVS

Type Transcript Protein
RefSeq NM_000152.4:c.-32-13T>G
NM_001079803.2:c.-32-13T>G
NM_001079804.2:c.-32-13T>G
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 Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 606800 OMIM
HGNC 4065 HGNC
Ensembl ENSG00000171298 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv400599259 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-09-01 no assertion criteria provided Glycogen storage disease II, adult form germline Detail
Pathogenic Likely pathogenic 2024-03-17 criteria provided, multiple submitters, no conflicts Glycogen storage disease, type II germline paternal unknown Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-01-01 criteria provided, single submitter myopathy unknown Detail
Pathogenic 2023-03-30 criteria provided, single submitter Glycogen storage disease due to acid maltase deficiency, late-onset germline Detail
Pathogenic 2022-08-19 criteria provided, single submitter Glycogen storage disease, type IV germline Detail
Pathogenic 2023-07-14 criteria provided, single submitter germline Detail
Pathogenic 2023-01-16 criteria provided, single submitter GAA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.499 Glycogen storage disease type II NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000152.5(GAA):c.-32-13T>G AND Glycogen storage disease II, adult form ClinVar Detail
NM_000152.5(GAA):c.-32-13T>G AND Glycogen storage disease, type II ClinVar Detail
NM_000152.5(GAA):c.-32-13T>G AND not provided ClinVar Detail
NM_000152.5(GAA):c.-32-13T>G AND Myopathy ClinVar Detail
NM_000152.5(GAA):c.-32-13T>G AND Glycogen storage disease due to acid maltase deficiency, late-onset ClinVar Detail
NM_000152.5(GAA):c.-32-13T>G AND Glycogen storage disease, type IV ClinVar Detail
NM_000152.5(GAA):c.-32-13T>G AND Cardiovascular phenotype ClinVar Detail
NM_000152.5(GAA):c.-32-13T>G AND GAA-related disorder ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386834236 dbSNP
Genome
hg38
Position
chr17:80,104,542-80,104,542
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
7974
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.2540757461750688E-4
Chromosome Counts in All Race (ExAC)
101332
Allele Counts in All Race (ExAC)
363
Heterozygous Counts in All Race (ExAC)
359
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.0035822839774207554
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