chr1:155237444:A>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	chr1:155,207,235-155,207,235 View the variant detail on this assembly version.
hg38	chr1:155,237,444-155,237,444

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_001005741.2:c.896T>C	NP_001005741.1:p.Ile299Thr
	NM_001005742.2:c.896T>C	NP_001005742.1:p.Ile299Thr
	NM_000157.3:c.896T>C	NP_000148.2:p.Ile299Thr
	NM_001171812.1:c.749T>C	NP_001165283.1:p.Ile250Thr
	NM_001171811.1:c.635T>C	NP_001165282.1:p.Ile212Thr
Ensemble	ENST00000327247.9:c.896T>C	ENST00000327247.9:p.Ile299Thr
	ENST00000368373.8:c.896T>C	ENST00000368373.8:p.Ile299Thr
	ENST00000427500.7:c.749T>C	ENST00000427500.7:p.Ile250Thr
	ENST00000428024.3:c.635T>C	ENST00000428024.3:p.Ile212Thr

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
Likely pathogenic	2023-05-11	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2020-01-14	criteria provided, single submitter	Gaucher disease	germline	Detail
Likely pathogenic	2021-07-13	criteria provided, single submitter	Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III	unknown	Detail
Likely pathogenic	2021-07-13	criteria provided, single submitter	Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III	unknown	Detail
Likely pathogenic	2021-07-13	criteria provided, single submitter	Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III	unknown	Detail
Likely pathogenic	2021-07-13	criteria provided, single submitter	Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III	unknown	Detail
Likely pathogenic	2021-07-13	criteria provided, single submitter	Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III	unknown	Detail
Likely pathogenic	2021-07-13	criteria provided, single submitter	Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III	unknown	Detail
Likely pathogenic	2021-07-13	criteria provided, single submitter	Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III	unknown	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.896T>C (p.Ile299Thr) AND not provided	ClinVar	Detail
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) AND Gaucher disease	ClinVar	Detail
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) AND multiple conditions	ClinVar	Detail
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) 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: rs794727908 dbSNP
Genome: hg38
Position: chr1:155,237,444-155,237,444
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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