chr1:155208005:A>C 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	chr1:155,208,005-155,208,005
hg38	chr1:155,238,214-155,238,214 View the variant detail on this assembly version.

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_001171811.1:c.420T>G	NP_001165282.1:p.Asn140Lys
	NM_001005741.2:c.681T>G	NP_001005741.1:p.Asn227Lys
	NM_001005742.2:c.681T>G	NP_001005742.1:p.Asn227Lys
	NM_000157.3:c.681T>G	NP_000148.2:p.Asn227Lys
	NM_001171812.1:c.534T>G	NP_001165283.1:p.Asn178Lys
Ensemble	ENST00000428024.3:c.420T>G	ENST00000428024.3:p.Asn140Lys
	ENST00000327247.9:c.681T>G	ENST00000327247.9:p.Asn227Lys
	ENST00000368373.8:c.681T>G	ENST00000368373.8:p.Asn227Lys
	ENST00000427500.7:c.534T>G	ENST00000427500.7:p.Asn178Lys

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	2023-08-08	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type I,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type I,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type I,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III	germline	Detail
Pathogenic		criteria provided, single submitter	Gaucher disease type I,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III	germline	Detail
Pathogenic Likely pathogenic	2023-02-13	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.681T>G (p.Asn227Lys) AND not provided	ClinVar	Detail
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) 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: rs381418 dbSNP
Genome: hg19
Position: chr1:155,208,005-155,208,005
Variant Type: snv
Reference Allele: A
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8422
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): 117486
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): 8.51165245220707E-6

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