chr1:155205620:C>A 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	chr1:155,205,620-155,205,620
hg38	chr1:155,235,829-155,235,829 View the variant detail on this assembly version.

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_000157.3:c.1240G>T	NP_000148.2:p.Val414Leu
	NM_001171812.1:c.1093G>T	NP_001165283.1:p.Val365Leu
	NM_001171811.1:c.979G>T	NP_001165282.1:p.Val327Leu
	NM_001005741.2:c.1240G>T	NP_001005741.1:p.Val414Leu
	NM_001005742.2:c.1240G>T	NP_001005742.1:p.Val414Leu
Ensemble	ENST00000368373.8:c.1240G>T	ENST00000368373.8:p.Val414Leu
	ENST00000427500.7:c.1093G>T	ENST00000427500.7:p.Val365Leu
	ENST00000428024.3:c.979G>T	ENST00000428024.3:p.Val327Leu
	ENST00000327247.9:c.1240G>T	ENST00000327247.9:p.Val414Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic 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
Pathogenic Likely pathogenic	2024-01-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2020-01-30	criteria provided, single submitter	Gaucher disease	germline	Detail
Likely pathogenic	2020-01-22	criteria provided, single submitter	Gaucher disease type I	germline	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.1240G>T (p.Val414Leu) AND not provided	ClinVar	Detail
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) AND Gaucher disease	ClinVar	Detail
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) AND Gaucher disease type I	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: rs398123528 dbSNP
Genome: hg19
Position: chr1:155,205,620-155,205,620
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121282
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.245246615326264E-6

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