chr17:80118255:C> Detail (hg38) (GAA)

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

Information

Genome

Assembly	Position
hg19	chr17:78,092,054-78,092,054
hg38	chr17:80,118,255-80,118,255

HGVS

GAA

Type	Transcript	Protein
RefSeq	NM_000152.4:c.2544delC	NP_000143.2:p.Lys849ArgfsTer38
	NM_001079803.2:c.2544delC	NP_001073271.1:p.Lys849ArgfsTer38
	NM_001079804.2:c.2544delC	NP_001073272.1:p.Lys849ArgfsTer38
Ensemble	ENST00000302262.8:c.2544delC	ENST00000302262.8:p.Lys849ArgfsTer38
	ENST00000390015.7:c.2544delC	ENST00000390015.7:p.Lys849ArgfsTer38
	ENST00000570803.6:c.2544delC	ENST00000570803.6:p.Lys849ArgfsTer38
	ENST00000577106.6:c.2544delC	ENST00000577106.6:p.Lys849ArgfsTer38
	ENST00000714054.1:c.1743delC	ENST00000714054.1:p.Lys582ArgfsTer38
	ENST00000714055.1:c.2544delC	ENST00000714055.1:p.Lys849ArgfsTer38
	ENST00000714057.1:c.2544delC	ENST00000714057.1:p.Lys849ArgfsTer38
	ENST00000714058.1:c.2544delC	ENST00000714058.1:p.Lys849ArgfsTer38
	ENST00000714062.1:c.1623delC	ENST00000714062.1:p.Lys542ArgfsTer38

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	2015-12-14	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2021-12-02	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.2544del (p.Lys849fs) AND not provided	ClinVar	Detail
NM_000152.5(GAA):c.2544del (p.Lys849fs) AND Glycogen storage disease, type II	ClinVar	Detail
NM_000152.5(GAA):c.2544del (p.Lys849fs) 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: rs398123173 dbSNP
Genome: hg38
Position: chr17:80,118,255-80,118,255
Variant Type: snv
Reference Allele: C
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8624
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 119340
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.379420144126027E-6

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