chr1:155235752:ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG> 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	chr1:155,205,543-155,205,597
hg38	chr1:155,235,752-155,235,806

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_001005741.2:c.1263_1317delCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT	NP_001005741.1:p.Leu422ProfsTer4
	NM_001005742.2:c.1263_1317delCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT	NP_001005742.1:p.Leu422ProfsTer4
	NM_000157.3:c.1263_1317delCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT	NP_000148.2:p.Leu422ProfsTer4
	NM_001171812.1:c.1116_1170delCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT	NP_001165283.1:p.Leu373ProfsTer4
	NM_001171811.1:c.1002_1056delCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT	NP_001165282.1:p.Leu335ProfsTer4
Ensemble	ENST00000327247.9:c.1263_1317delCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT	ENST00000327247.9:p.Leu422ProfsTer4
	ENST00000368373.8:c.1263_1317delCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT	ENST00000368373.8:p.Leu422ProfsTer4
	ENST00000427500.7:c.1116_1170delCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT	ENST00000427500.7:p.Leu373ProfsTer4
	ENST00000428024.3:c.1002_1056delCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGT	ENST00000428024.3:p.Leu335ProfsTer4

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2000-03-01	no assertion criteria provided	Gaucher disease perinatal lethal	germline	Detail
Pathogenic	2016-05-19	criteria provided, single submitter	Gaucher disease	germline unknown	Detail
Pathogenic	2000-03-01	no assertion criteria provided	Gaucher disease type I	germline	Detail
Pathogenic	2024-01-23	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2021-12-28	criteria provided, single submitter	Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I,Lewy body dementia,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Pathogenic	2021-12-28	criteria provided, single submitter	Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I,Lewy body dementia,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Pathogenic	2021-12-28	criteria provided, single submitter	Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I,Lewy body dementia,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Pathogenic	2021-12-28	criteria provided, single submitter	Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I,Lewy body dementia,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Pathogenic	2021-12-28	criteria provided, single submitter	Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I,Lewy body dementia,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Pathogenic	2021-12-28	criteria provided, single submitter	Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I,Lewy body dementia,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II	unknown	Detail
Pathogenic	2021-12-28	criteria provided, single submitter	Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I,Lewy body dementia,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
0.445	Gaucher Disease, Type 1	NA	CLINVAR		Detail
0.355	Gaucher disease	NA	CLINVAR		Detail
0.360	GAUCHER DISEASE, PERINATAL LETHAL	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND Gaucher disease perinatal lethal	ClinVar	Detail
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND Gaucher disease	ClinVar	Detail
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND Gaucher disease type I	ClinVar	Detail
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND not provided	ClinVar	Detail
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND multiple conditions	ClinVar	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: rs80356768 dbSNP
Genome: hg38
Position: chr1:155,235,752-155,235,806
Variant Type: snv
Reference Allele: ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG
Alternative Allele: -

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