chr1:155208005:AT>CC 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	chr1:155,208,005-155,208,006
hg38	chr1:155,238,214-155,238,215 View the variant detail on this assembly version.

HGVS

GBA1

Type	Transcript	Protein
RefSeq	NM_000157.3:c.680_681delinsGG	NP_000148.2:p.Asn227Arg
	NM_001171812.1:c.533_534delinsGG	NP_001165283.1:p.Asn178Arg
	NM_001005741.2:c.680_681delinsGG	NP_001005741.1:p.Asn227Arg
	NM_001005742.2:c.680_681delinsGG	NP_001005742.1:p.Asn227Arg
	NM_001171811.1:c.419_420delinsGG	NP_001165282.1:p.Asn140Arg
Ensemble	ENST00000368373.8:c.680_681delinsGG	ENST00000368373.8:p.Asn227Arg
	ENST00000427500.7:c.533_534delinsGG	ENST00000427500.7:p.Asn178Arg
	ENST00000327247.9:c.680_681delinsGG	ENST00000327247.9:p.Asn227Arg
	ENST00000428024.3:c.419_420delinsGG	ENST00000428024.3:p.Asn140Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2022-05-04	criteria provided, conflicting interpretations	not provided	germline	Detail
Uncertain significance	2023-12-07	criteria provided, single submitter	not specified	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.680_681delinsGG (p.Asn227Arg) AND not provided	ClinVar	Detail
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg) AND not specified	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: rs786200979 dbSNP
Genome: hg19
Position: chr1:155,208,005-155,208,006
Variant Type: snv
Reference Allele: AT
Alternative Allele: CC

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