chr17:80112929:G>A Detail (hg38) (GAA)

Information

Genome

Assembly Position
hg19 chr17:78,086,728-78,086,728 View the variant detail on this assembly version.
hg38 chr17:80,112,929-80,112,929

HGVS

Type Transcript Protein
RefSeq NM_000152.4:c.1942G>A NP_000143.2:p.Gly648Ser
NM_001079803.2:c.1942G>A NP_001073271.1:p.Gly648Ser
NM_001079804.2:c.1942G>A NP_001073272.1:p.Gly648Ser
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
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 tgv400599663 TogoVar
COSMIC COSM4070388 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-07-03 reviewed by expert panel Glycogen storage disease, type II germline unknown Detail
Pathogenic 2024-01-04 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.499 Glycogen storage disease type II NA CLINVAR Detail
0.499 Glycogen storage disease type II Glycogen storage disease type II (GSDII), an autosomal recessive myopathic disor... UNIPROT 9535769 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) AND Glycogen storage disease, type II ClinVar Detail
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) AND not provided ClinVar Detail
NA DisGeNET Detail
Glycogen storage disease type II (GSDII), an autosomal recessive myopathic disorder, results from de... 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
rs536906561 dbSNP
Genome
hg38
Position
chr17:80,112,929-80,112,929
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
7104
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)
88418
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.0178922843764845E-4
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