chr17:78078692:T>G Detail (hg19) (GAA)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:78,078,692-78,078,692
hg38	chr17:80,104,893-80,104,893 View the variant detail on this assembly version.

HGVS

GAA

Type	Transcript	Protein
RefSeq	NM_000152.4:c.307T>G	NP_000143.2:p.Cys103Gly
	NM_001079803.2:c.307T>G	NP_001073271.1:p.Cys103Gly
	NM_001079804.2:c.307T>G	NP_001073272.1:p.Cys103Gly
Ensemble	ENST00000714058.1:c.307T>G	ENST00000714058.1:p.Cys103Gly
	ENST00000302262.8:c.307T>G	ENST00000302262.8:p.Cys103Gly
	ENST00000714055.1:c.307T>G	ENST00000714055.1:p.Cys103Gly
	ENST00000714057.1:c.307T>G	ENST00000714057.1:p.Cys103Gly
	ENST00000714054.1:c.-255-856T>G
	ENST00000577106.6:c.307T>G	ENST00000577106.6:p.Cys103Gly
	ENST00000570803.6:c.307T>G	ENST00000570803.6:p.Cys103Gly
	ENST00000390015.7:c.307T>G	ENST00000390015.7:p.Cys103Gly
	ENST00000714062.1:c.-255-856T>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	2024-03-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-09-21	reviewed by expert panel	Glycogen storage disease, type II	germline unknown	Detail
Pathogenic	2015-12-23	criteria provided, single submitter	glycogen storage disease	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.307T>G (p.Cys103Gly) AND not provided	ClinVar	Detail
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) AND Glycogen storage disease, type II	ClinVar	Detail
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) AND Glycogen storage disease	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: rs398123174 dbSNP
Genome: hg19
Position: chr17:78,078,692-78,078,692
Variant Type: snv
Reference Allele: T
Alternative Allele: G

Genome browser