chr1:155205047:C>T 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	chr1:155,205,047-155,205,047
hg38	chr1:155,235,256-155,235,256 View the variant detail on this assembly version.

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_001171812.1:c.1297G>A	NP_001165283.1:p.Asp433Asn
	NM_000157.3:c.1444G>A	NP_000148.2:p.Asp482Asn
	NM_001171811.1:c.1183G>A	NP_001165282.1:p.Asp395Asn
	NM_001005741.2:c.1444G>A	NP_001005741.1:p.Asp482Asn
	NM_001005742.2:c.1444G>A	NP_001005742.1:p.Asp482Asn
Ensemble	ENST00000427500.7:c.1297G>A	ENST00000427500.7:p.Asp433Asn
	ENST00000368373.8:c.1444G>A	ENST00000368373.8:p.Asp482Asn
	ENST00000428024.3:c.1183G>A	ENST00000428024.3:p.Asp395Asn
	ENST00000327247.9:c.1444G>A	ENST00000327247.9:p.Asp482Asn

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	Conflicting classifications of pathogenicity
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
risk factor	2009-07-01	no assertion criteria provided	Parkinson disease, late-onset	germline	Detail
Likely benign	2020-01-06	criteria provided, single submitter	not specified	germline	Detail
Conflicting interpretations of pathogenicity	2023-04-01	criteria provided, conflicting interpretations	not provided	germline	Detail
Likely benign	2017-11-14	no assertion criteria provided	Gaucher disease	germline	Detail
Likely benign	2022-02-23	criteria provided, single submitter	Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease type I,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Likely benign	2022-02-23	criteria provided, single submitter	Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease type I,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Likely benign	2022-02-23	criteria provided, single submitter	Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease type I,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Likely benign	2022-02-23	criteria provided, single submitter	Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease type I,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Likely benign	2022-02-23	criteria provided, single submitter	Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease type I,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Likely benign	2022-02-23	criteria provided, single submitter	Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease type I,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Likely benign	2022-02-23	criteria provided, single submitter	Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease type I,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Parkinson disease, late-onset	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND Parkinson disease, late-onset	ClinVar	Detail
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND not specified	ClinVar	Detail
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND not provided	ClinVar	Detail
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND Gaucher disease	ClinVar	Detail
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND multiple conditions	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: rs75671029 dbSNP
Genome: hg19
Position: chr1:155,205,047-155,205,047
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8638
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): 120970
Allele Counts in All Race (ExAC): 84
Heterozygous Counts in All Race (ExAC): 84
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.943870381086219E-4

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