chr17:78086721:C>A Detail (hg19) (GAA)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr17:78,086,721-78,086,721
hg38	chr17:80,112,922-80,112,922 View the variant detail on this assembly version.

HGVS

GAA

Type	Transcript	Protein
RefSeq	NM_000152.4:c.1935C>A	NP_000143.2:p.Asp645Glu
	NM_001079803.2:c.1935C>A	NP_001073271.1:p.Asp645Glu
	NM_001079804.2:c.1935C>A	NP_001073272.1:p.Asp645Glu
Ensemble	ENST00000714055.1:c.1935C>A	ENST00000714055.1:p.Asp645Glu
	ENST00000302262.8:c.1935C>A	ENST00000302262.8:p.Asp645Glu
	ENST00000714058.1:c.1935C>A	ENST00000714058.1:p.Asp645Glu
	ENST00000714062.1:c.1014C>A	ENST00000714062.1:p.Asp338Glu
	ENST00000390015.7:c.1935C>A	ENST00000390015.7:p.Asp645Glu
	ENST00000570803.6:c.1935C>A	ENST00000570803.6:p.Asp645Glu
	ENST00000577106.6:c.1935C>A	ENST00000577106.6:p.Asp645Glu
	ENST00000714054.1:c.1134C>A	ENST00000714054.1:p.Asp378Glu
	ENST00000714057.1:c.1935C>A	ENST00000714057.1:p.Asp645Glu

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:0.002

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

GAA

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	1998-01-01	no assertion criteria provided	Glycogen storage disease type II, infantile	germline	Detail
Pathogenic	2021-09-07	reviewed by expert panel	Glycogen storage disease, type II	germline inherited maternal unknown	Detail
Pathogenic	2023-12-20	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-10-03	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Glycogen storage disease type II, infantile	NA	CLINVAR		Detail
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

Descrption	Source	Links
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) AND Glycogen storage disease type II, infantile	ClinVar	Detail
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) AND Glycogen storage disease, type II	ClinVar	Detail
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) AND not provided	ClinVar	Detail
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	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: rs28940868 dbSNP
Genome: hg19
Position: chr17:78,086,721-78,086,721
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 7014
East Asian Allele Counts (ExAC): 15
East Asian Heterozygous Counts (ExAC): 15
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.00213857998289136
Chromosome Counts in All Race (ExAC): 87148
Allele Counts in All Race (ExAC): 15
Heterozygous Counts in All Race (ExAC): 15
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.7212098958094277E-4

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