chr17:78087081:G>A Detail (hg19) (GAA)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:78,087,081-78,087,081
hg38	chr17:80,113,282-80,113,282 View the variant detail on this assembly version.

HGVS

GAA

Type	Transcript	Protein
RefSeq	NM_000152.4:c.2105G>A	NP_000143.2:p.Arg702His
	NM_001079803.2:c.2105G>A	NP_001073271.1:p.Arg702His
	NM_001079804.2:c.2105G>A	NP_001073272.1:p.Arg702His
Ensemble	ENST00000714058.1:c.2105G>A	ENST00000714058.1:p.Arg702His
	ENST00000714055.1:c.2105G>A	ENST00000714055.1:p.Arg702His
	ENST00000302262.8:c.2105G>A	ENST00000302262.8:p.Arg702His
	ENST00000570803.6:c.2105G>A	ENST00000570803.6:p.Arg702His
	ENST00000390015.7:c.2105G>A	ENST00000390015.7:p.Arg702His
	ENST00000714062.1:c.1184G>A	ENST00000714062.1:p.Arg395His
	ENST00000714057.1:c.2105G>A	ENST00000714057.1:p.Arg702His
	ENST00000714054.1:c.1304G>A	ENST00000714054.1:p.Arg435His
	ENST00000577106.6:c.2105G>A	ENST00000577106.6:p.Arg702His

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

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 Likely pathogenic	2023-10-26	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2024-03-05	reviewed by expert panel	Glycogen storage disease, type II	germline unknown	Detail
Likely pathogenic	2023-12-07	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

Descrption	Source	Links
NM_000152.5(GAA):c.2105G>A (p.Arg702His) AND not provided	ClinVar	Detail
NM_000152.5(GAA):c.2105G>A (p.Arg702His) AND Glycogen storage disease, type II	ClinVar	Detail
NM_000152.5(GAA):c.2105G>A (p.Arg702His) AND GAA-related disorder	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: rs398123172 dbSNP
Genome: hg19
Position: chr17:78,087,081-78,087,081
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 4752
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 2.1043771043771043E-4
Chromosome Counts in All Race (ExAC): 59748
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.69478476266988E-5

Genome browser