chr17:78081447:G>A Detail (hg19) (GAA)

Information

Genome

Assembly Position
hg19 chr17:78,081,447-78,081,447
hg38 chr17:80,107,648-80,107,648 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001079803.2:c.784G>A NP_001073271.1:p.Glu262Lys
NM_001079804.2:c.784G>A NP_001073272.1:p.Glu262Lys
NM_000152.4:c.784G>A NP_000143.2:p.Glu262Lys
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-08-25 reviewed by expert panel Glycogen storage disease, type II germline unknown Detail
Pathogenic 2022-06-29 criteria provided, multiple submitters, no conflicts 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 Therefore, newborn screening for Pompe disease could be successfully conducted b... UNIPROT 20080426 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) AND Glycogen storage disease, type II ClinVar Detail
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) AND not provided ClinVar Detail
NA DisGeNET Detail
Therefore, newborn screening for Pompe disease could be successfully conducted by including genotypi... 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
rs201896815 dbSNP
Genome
hg19
Position
chr17:78,081,447-78,081,447
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8618
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1603620329542818E-4
Chromosome Counts in All Race (ExAC)
120488
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6599163402164532E-5
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