chr1:155237470:G>T 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	chr1:155,207,261-155,207,261 View the variant detail on this assembly version.
hg38	chr1:155,237,470-155,237,470

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_001005741.2:c.870C>A	NP_001005741.1:p.Phe290Leu
	NM_001005742.2:c.870C>A	NP_001005742.1:p.Phe290Leu
	NM_000157.3:c.870C>A	NP_000148.2:p.Phe290Leu
	NM_001171812.1:c.723C>A	NP_001165283.1:p.Phe241Leu
	NM_001171811.1:c.609C>A	NP_001165282.1:p.Phe203Leu
Ensemble	ENST00000327247.9:c.870C>A	ENST00000327247.9:p.Phe290Leu
	ENST00000368373.8:c.870C>A	ENST00000368373.8:p.Phe290Leu
	ENST00000427500.7:c.723C>A	ENST00000427500.7:p.Phe241Leu
	ENST00000428024.3:c.609C>A	ENST00000428024.3:p.Phe203Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	2003-07-01	no assertion criteria provided	Gaucher disease perinatal lethal	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.355	Gaucher disease	A single nucleotide alteration in MTX1, 628T-->C, resulting in the amino acid...	BeFree	15024629	Detail
0.360	GAUCHER DISEASE, PERINATAL LETHAL	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000157.4(GBA1):c.870C>A (p.Phe290Leu) AND Gaucher disease perinatal lethal	ClinVar	Detail
A single nucleotide alteration in MTX1, 628T-->C, resulting in the amino acid change F202L, was i...	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: rs121908313 dbSNP
Genome: hg38
Position: chr1:155,237,470-155,237,470
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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