chr1:155238575:G> 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	chr1:155,208,366-155,208,366
hg38	chr1:155,238,575-155,238,575

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_001005741.2:c.530delC	NP_001005741.1:p.Pro178LeufsTer22
	NM_001005742.2:c.530delC	NP_001005742.1:p.Pro178LeufsTer22
	NM_000157.3:c.530delC	NP_000148.2:p.Pro178LeufsTer22
	NM_001171812.1:c.383delC	NP_001165283.1:p.Pro129LeufsTer22
	NM_001171811.1:c.269delC	NP_001165282.1:p.Pro91LeufsTer22
Ensemble	ENST00000327247.9:c.530delC	ENST00000327247.9:p.Pro178LeufsTer22
	ENST00000368373.8:c.530delC	ENST00000368373.8:p.Pro178LeufsTer22
	ENST00000427500.7:c.383delC	ENST00000427500.7:p.Pro129LeufsTer22
	ENST00000428024.3:c.269delC	ENST00000428024.3:p.Pro91LeufsTer22

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	2017-06-21	no assertion criteria provided	Gaucher disease perinatal lethal	germline	Detail
Likely pathogenic	2021-07-22	criteria provided, single submitter	Gaucher disease type I	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	GAUCHER DISEASE, PERINATAL LETHAL	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000157.4(GBA1):c.533del (p.Pro178fs) AND Gaucher disease perinatal lethal	ClinVar	Detail
NM_000157.4(GBA1):c.533del (p.Pro178fs) AND Gaucher disease type I	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: rs397518434 dbSNP
Genome: hg38
Position: chr1:155,238,575-155,238,575
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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