chr1:155208388:G>A Detail (hg19) (GBA1, LOC106627981)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr1:155,208,388-155,208,388
hg38	chr1:155,238,597-155,238,597 View the variant detail on this assembly version.

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_001171812.1:c.361C>T	NP_001165283.1:p.Arg121Cys
	NM_001005741.2:c.508C>T	NP_001005741.1:p.Arg170Cys
	NM_001005742.2:c.508C>T	NP_001005742.1:p.Arg170Cys
	NM_000157.3:c.508C>T	NP_000148.2:p.Arg170Cys
	NM_001171811.1:c.247C>T	NP_001165282.1:p.Arg83Cys
Ensemble	ENST00000427500.7:c.361C>T	ENST00000427500.7:p.Arg121Cys
	ENST00000327247.9:c.508C>T	ENST00000327247.9:p.Arg170Cys
	ENST00000368373.8:c.508C>T	ENST00000368373.8:p.Arg170Cys
	ENST00000428024.3:c.247C>T	ENST00000428024.3:p.Arg83Cys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type II,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type II,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type II,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type II,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I	germline	Detail
Pathogenic	2023-04-26	criteria provided, multiple submitters, no conflicts	Gaucher disease	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.445	Gaucher Disease, Type 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) AND not provided	ClinVar	Detail
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) AND Gaucher 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: rs398123530 dbSNP
Genome: hg19
Position: chr1:155,208,388-155,208,388
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser