chr1:155210876:C>T Detail (hg19) (GBA1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:155,210,876-155,210,876
hg38	chr1:155,241,085-155,241,085 View the variant detail on this assembly version.

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_000157.3:c.27+1G>A
	NM_001171812.1:c.27+1G>A
	NM_001005741.2:c.27+1G>A
	NM_001005742.2:c.27+1G>A
	NM_001171811.1:c.-146-1008G>A
Ensemble	ENST00000368373.8:c.27+1G>A
	ENST00000427500.7:c.27+1G>A
	ENST00000327247.9:c.27+1G>A
	ENST00000428024.3:c.-146-1008G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

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
0.441	Gaucher Disease, Type 2 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs80356759 dbSNP
Genome: hg19
Position: chr1:155,210,876-155,210,876
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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