chr1:155207983:A>G Detail (hg19) (GBA1, LOC106627981)

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

Information

Genome

Assembly	Position
hg19	chr1:155,207,983-155,207,983
hg38	chr1:155,238,192-155,238,192 View the variant detail on this assembly version.

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_001171812.1:c.556T>C	NP_001165283.1:p.Ser186Pro
	NM_000157.3:c.703T>C	NP_000148.2:p.Ser235Pro
	NM_001171811.1:c.442T>C	NP_001165282.1:p.Ser148Pro
	NM_001005741.2:c.703T>C	NP_001005741.1:p.Ser235Pro
	NM_001005742.2:c.703T>C	NP_001005742.1:p.Ser235Pro
Ensemble	ENST00000427500.7:c.556T>C	ENST00000427500.7:p.Ser186Pro
	ENST00000368373.8:c.703T>C	ENST00000368373.8:p.Ser235Pro
	ENST00000428024.3:c.442T>C	ENST00000428024.3:p.Ser148Pro
	ENST00000327247.9:c.703T>C	ENST00000327247.9:p.Ser235Pro

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 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	2020-01-13	criteria provided, multiple submitters, no conflicts	Gaucher disease	germline	Detail
Pathogenic	2017-12-03	criteria provided, single submitter	Gaucher disease perinatal lethal	inherited	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type I,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type I,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type I,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type I,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	germline	Detail
Pathogenic	2021-09-29	criteria provided, single submitter	Gaucher disease type III,Gaucher disease perinatal lethal,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease type I	unknown	Detail
Pathogenic	2021-09-29	criteria provided, single submitter	Gaucher disease type III,Gaucher disease perinatal lethal,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease type I	unknown	Detail
Pathogenic	2021-09-29	criteria provided, single submitter	Gaucher disease type III,Gaucher disease perinatal lethal,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease type I	unknown	Detail
Pathogenic	2021-09-29	criteria provided, single submitter	Gaucher disease type III,Gaucher disease perinatal lethal,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease type I	unknown	Detail
Pathogenic	2021-09-29	criteria provided, single submitter	Gaucher disease type III,Gaucher disease perinatal lethal,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease type I	unknown	Detail
Pathogenic	2021-09-29	criteria provided, single submitter	Gaucher disease type III,Gaucher disease perinatal lethal,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease type I	unknown	Detail
Pathogenic	2021-09-29	criteria provided, single submitter	Gaucher disease type III,Gaucher disease perinatal lethal,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type II,Lewy body dementia,Gaucher disease type I	unknown	Detail
Pathogenic	2021-11-03	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2016-12-13	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.355	Gaucher disease	NA	CLINVAR		Detail
0.445	Gaucher Disease, Type 1	Analysis and classification of 304 mutant alleles in patients with type 1 and ty...	UNIPROT	10796875	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND Gaucher disease	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND Gaucher disease perinatal lethal	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND not provided	ClinVar	Detail
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND not specified	ClinVar	Detail
NA	DisGeNET	Detail
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease...	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: rs1064644 dbSNP
Genome: hg19
Position: chr1:155,207,983-155,207,983
Variant Type: snv
Reference Allele: A
Alternative Allele: G
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): 120788
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.278968109414843E-6

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