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NM_000157.3(GBA):c.93_94insG (p.Gln32Alafs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 8, 2013)
Last evaluated:
Feb 1, 2011
Accession:
VCV000021073.1
Variation ID:
21073
Description:
1bp insertion
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NM_000157.3(GBA):c.93_94insG (p.Gln32Alafs)

Allele ID
33925
Variant type
Insertion
Variant length
1 bp
Cytogenetic location
1q22
Genomic location
1: 155240651-155240652 (GRCh38) GRCh38 UCSC
1: 155210442-155210443 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.155210442_155210443insC
NC_000001.11:g.155240651_155240652insC
NM_001005741.2:c.93_94insG NP_001005741.1:p.Gln32Alafs frameshift
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs80356760
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Feb 1, 2011 RCV000020160.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GBA - - GRCh38
GRCh38
GRCh37
12 161

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
pathologic
(Feb 01, 2011)
no assertion criteria provided
Method: curation
Gaucher Disease
Allele origin: not provided
GeneReviews
Accession: SCV000040487.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

Citations for this variant

Title Author Journal Year Link
Gaucher Disease Pastores GM - 2018 PMID: 20301446

Record last updated Jun 17, 2019