chr17:80105771:G>A Detail (hg38) (GAA)

Information

Genome

Assembly Position
hg19 chr17:78,079,570-78,079,570 View the variant detail on this assembly version.
hg38 chr17:80,105,771-80,105,771

HGVS

Type Transcript Protein
RefSeq NM_000152.4:c.569G>A NP_000143.2:p.Arg190His
NM_001079803.2:c.569G>A NP_001073271.1:p.Arg190His
NM_001079804.2:c.569G>A NP_001073272.1:p.Arg190His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 tgv58857320 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other unknown MGS000067
(TMGS000139) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts Glycogen storage disease, type II germline unknown Detail
Likely pathogenic 2023-07-31 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2023-12-14 criteria provided, single submitter 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.569G>A (p.Arg190His) AND Glycogen storage disease, type II ClinVar Detail
NM_000152.5(GAA):c.569G>A (p.Arg190His) AND not provided ClinVar Detail
NM_000152.5(GAA):c.569G>A (p.Arg190His) AND Cardiovascular phenotype 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
rs528367092 dbSNP
Genome
hg38
Position
chr17:80,105,771-80,105,771
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs528367092
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8636
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)
120834
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)
8.275816409288777E-6
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