chr1:155235196:G>A Detail (hg38) (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	chr1:155,204,987-155,204,987 View the variant detail on this assembly version.
hg38	chr1:155,235,196-155,235,196

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_001005741.2:c.1504C>T	NP_001005741.1:p.Arg502Cys
	NM_001005742.2:c.1504C>T	NP_001005742.1:p.Arg502Cys
	NM_000157.3:c.1504C>T	NP_000148.2:p.Arg502Cys
	NM_001171812.1:c.1357C>T	NP_001165283.1:p.Arg453Cys
	NM_001171811.1:c.1243C>T	NP_001165282.1:p.Arg415Cys
Ensemble	ENST00000327247.9:c.1504C>T	ENST00000327247.9:p.Arg502Cys
	ENST00000368373.8:c.1504C>T	ENST00000368373.8:p.Arg502Cys
	ENST00000427500.7:c.1357C>T	ENST00000427500.7:p.Arg453Cys
	ENST00000428024.3:c.1243C>T	ENST00000428024.3:p.Arg415Cys

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

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	tgv184505659	TogoVar
	COSMIC	COSM2210227	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-07-30	criteria provided, multiple submitters, no conflicts	Gaucher disease type I	germline paternal unknown	Detail
Pathogenic	2009-07-01	no assertion criteria provided	Gaucher disease type II	germline	Detail
Pathogenic	2009-07-01	no assertion criteria provided	Gaucher disease type III	germline	Detail
Pathogenic	2021-05-03	criteria provided, single submitter	Parkinson disease, late-onset	germline	Detail
Pathogenic	2022-06-24	criteria provided, multiple submitters, no conflicts	Gaucher disease	germline	Detail
Pathogenic	2024-01-17	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2021-12-01	criteria provided, single submitter	Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease perinatal lethal,Gaucher disease type I	unknown	Detail
Pathogenic	2021-12-01	criteria provided, single submitter	Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease perinatal lethal,Gaucher disease type I	unknown	Detail
Pathogenic	2021-12-01	criteria provided, single submitter	Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease perinatal lethal,Gaucher disease type I	unknown	Detail
Pathogenic	2021-12-01	criteria provided, single submitter	Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease perinatal lethal,Gaucher disease type I	unknown	Detail
Pathogenic	2021-12-01	criteria provided, single submitter	Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease perinatal lethal,Gaucher disease type I	unknown	Detail
Pathogenic	2021-12-01	criteria provided, single submitter	Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease perinatal lethal,Gaucher disease type I	unknown	Detail
Pathogenic	2021-12-01	criteria provided, single submitter	Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease perinatal lethal,Gaucher disease type I	unknown	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	germline	Detail
Pathogenic	2015-03-02	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.445	Gaucher Disease, Type 1	NA	CLINVAR	Detail
0.120	Parkinson disease, late-onset	NA	CLINVAR	Detail
0.355	Gaucher disease	NA	CLINVAR	Detail
0.441	Gaucher Disease, Type 2 (disorder)	NA	CLINVAR	Detail
0.441	Gaucher Disease, Type 3 (disorder)	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND Gaucher disease type I	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND Gaucher disease type II	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND Gaucher disease type III	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND Parkinson disease, late-onset	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND Gaucher disease	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND not provided	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND not specified	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs80356771 dbSNP
Genome: hg38
Position: chr1:155,235,196-155,235,196
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
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): 121382
Allele Counts in All Race (ExAC): 7
Heterozygous Counts in All Race (ExAC): 7
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.766917664892653E-5

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