chr1:155205634:T>G 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	chr1:155,205,634-155,205,634
hg38	chr1:155,235,843-155,235,843 View the variant detail on this assembly version.

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_001171811.1:c.965A>C	NP_001165282.1:p.Asn322Thr
	NM_001005741.2:c.1226A>C	NP_001005741.1:p.Asn409Thr
	NM_001005742.2:c.1226A>C	NP_001005742.1:p.Asn409Thr
	NM_001171812.1:c.1079A>C	NP_001165283.1:p.Asn360Thr
	NM_000157.3:c.1226A>C	NP_000148.2:p.Asn409Thr
Ensemble	ENST00000428024.3:c.965A>C	ENST00000428024.3:p.Asn322Thr
	ENST00000327247.9:c.1226A>C	ENST00000327247.9:p.Asn409Thr
	ENST00000427500.7:c.1079A>C	ENST00000427500.7:p.Asn360Thr
	ENST00000368373.8:c.1226A>C	ENST00000368373.8:p.Asn409Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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
not provided		no assertion provided	Gaucher disease	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.445	Gaucher Disease, Type 1	NA	CLINVAR		Detail
0.445	Gaucher Disease, Type 1	A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mut...	UNIPROT	10206680	Detail
0.120	Parkinson disease, late-onset	NA	CLINVAR		Detail
0.355	Gaucher disease	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000157.4(GBA1):c.1226A>C (p.Asn409Thr) AND Gaucher disease	ClinVar	Detail
NA	DisGeNET	Detail
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. ...	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: rs76763715 dbSNP
Genome: hg19
Position: chr1:155,205,634-155,205,634
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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