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NM_000046.5(ARSB):c.290A>G (p.Gln97Arg)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 29, 2016)
Accession:
VCV000266120.2
Variation ID:
266120
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.290A>G (p.Gln97Arg)

Allele ID
260944
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78984959 (GRCh38) GRCh38 UCSC
5: 78280782 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78984959T>C
NC_000005.9:g.78280782T>C
NG_007089.1:g.6576A>G
... more HGVS
Protein change
Q97R
Other names
-
Canonical SPDI
NC_000005.10:78984958:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10588994
dbSNP: rs886039914
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000256474.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARSB - - GRCh38
GRCh37
570 583

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Mucopolysaccharidosis type 6
Allele origin: de novo
Diagnostics Division,CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
Accession: SCV000323256.1
Submitted: (Apr 29, 2016)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs886039914...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021