chr1:155205517:T>A Detail (hg19) (GBA1, LOC106627981)

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

Genome

Assembly	Position
hg19	chr1:155,205,517-155,205,517
hg38	chr1:155,235,726-155,235,726 View the variant detail on this assembly version.

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_000157.3:c.1343A>T	NP_000148.2:p.Asp448Val
	NM_001171812.1:c.1196A>T	NP_001165283.1:p.Asp399Val
	NM_001171811.1:c.1082A>T	NP_001165282.1:p.Asp361Val
	NM_001005741.2:c.1343A>T	NP_001005741.1:p.Asp448Val
	NM_001005742.2:c.1343A>T	NP_001005742.1:p.Asp448Val
Ensemble	ENST00000368373.8:c.1343A>T	ENST00000368373.8:p.Asp448Val
	ENST00000427500.7:c.1196A>T	ENST00000427500.7:p.Asp399Val
	ENST00000428024.3:c.1082A>T	ENST00000428024.3:p.Asp361Val
	ENST00000327247.9:c.1343A>T	ENST00000327247.9:p.Asp448Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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Links

GBA1

Type	Database	ID	Link
Gene	MIM	606463	OMIM
	HGNC	4177	HGNC
	Ensembl	ENSG00000177628	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	2022-06-18	no assertion criteria provided	Gaucher disease type III	germline	Detail
not provided		no assertion provided	Gaucher disease	unknown	Detail
Likely pathogenic	2015-12-21	criteria provided, single submitter	Gaucher disease type I	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.355	Gaucher disease	NA	CLINVAR		Detail
0.441	Gaucher Disease, Type 3 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) AND Gaucher disease type III	ClinVar	Detail
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) AND Gaucher disease	ClinVar	Detail
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) AND Gaucher disease type I	ClinVar	Detail
NA	DisGeNET	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: rs77369218 dbSNP
Genome: hg19
Position: chr1:155,205,517-155,205,517
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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