chr17:80107894:T>C Detail (hg38) (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	chr17:78,081,693-78,081,693 View the variant detail on this assembly version.
hg38	chr17:80,107,894-80,107,894

HGVS

GAA

Type	Transcript	Protein
RefSeq	NM_000152.4:c.953T>C	NP_000143.2:p.Met318Thr
	NM_001079803.2:c.953T>C	NP_001073271.1:p.Met318Thr
	NM_001079804.2:c.953T>C	NP_001073272.1:p.Met318Thr
Ensemble	ENST00000302262.8:c.953T>C	ENST00000302262.8:p.Met318Thr
	ENST00000390015.7:c.953T>C	ENST00000390015.7:p.Met318Thr
	ENST00000570803.6:c.953T>C	ENST00000570803.6:p.Met318Thr
	ENST00000577106.6:c.953T>C	ENST00000577106.6:p.Met318Thr
	ENST00000714054.1:c.152T>C	ENST00000714054.1:p.Met51Thr
	ENST00000714055.1:c.953T>C	ENST00000714055.1:p.Met318Thr
	ENST00000714057.1:c.953T>C	ENST00000714057.1:p.Met318Thr
	ENST00000714058.1:c.953T>C	ENST00000714058.1:p.Met318Thr
	ENST00000714062.1:c.152T>C	ENST00000714062.1:p.Met51Thr

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	1991-09-01	no assertion criteria provided	Glycogen storage disease type II, infantile	germline	Detail
Conflicting interpretations of pathogenicity	2023-12-18	criteria provided, conflicting interpretations	not provided	germline	Detail
Pathogenic	2022-09-06	reviewed by expert panel	Glycogen storage disease, type II	germline unknown	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.953T>C (p.Met318Thr) AND Glycogen storage disease type II, infantile	ClinVar	Detail
NM_000152.5(GAA):c.953T>C (p.Met318Thr) AND not provided	ClinVar	Detail
NM_000152.5(GAA):c.953T>C (p.Met318Thr) 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: rs121907936 dbSNP
Genome: hg38
Position: chr17:80,107,894-80,107,894
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 7468
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): 103390
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.836057645807138E-5

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