chr17:78092512:AAG> Detail (hg19) (GAA)

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

Genome

Assembly	Position
hg19	chr17:78,092,512-78,092,514
hg38	chr17:80,118,713-80,118,715

HGVS

GAA

Type	Transcript	Protein
RefSeq	NM_001079803.2:c.2707_2709delAAG	NP_001073271.1:p.Lys903del
	NM_001079804.2:c.2707_2709delAAG	NP_001073272.1:p.Lys903del
	NM_000152.4:c.2707_2709delAAG	NP_000143.2:p.Lys903del
Ensemble	ENST00000390015.7:c.2707_2709delAAG	ENST00000390015.7:p.Lys903del
	ENST00000570803.6:c.2707_2709delAAG	ENST00000570803.6:p.Lys903del
	ENST00000714062.1:c.1786_1788delAAG	ENST00000714062.1:p.Lys596del
	ENST00000714057.1:c.2707_2709delAAG	ENST00000714057.1:p.Lys903del
	ENST00000714054.1:c.1906_1908delAAG	ENST00000714054.1:p.Lys636del
	ENST00000577106.6:c.2707_2709delAAG	ENST00000577106.6:p.Lys903del
	ENST00000714058.1:c.2707_2709delAAG	ENST00000714058.1:p.Lys903del
	ENST00000302262.8:c.2707_2709delAAG	ENST00000302262.8:p.Lys903del
	ENST00000714055.1:c.2707_2709delAAG	ENST00000714055.1:p.Lys903del

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	1995-04-01	no assertion criteria provided	Glycogen storage disease type II, infantile	germline	Detail
Pathogenic	2023-06-27	criteria provided, single submitter	Glycogen storage disease, type II	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) AND Glycogen storage disease type II, infantile	ClinVar	Detail
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) AND Glycogen storage disease, type II	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: rs121907939 dbSNP
Genome: hg19
Position: chr17:78,092,512-78,092,514
Variant Type: snv
Reference Allele: AAG
Alternative Allele: -

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