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NM_000027.4(AGA):c.369_373del (p.His124fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 19, 2013)
Accession:
VCV000055943.1
Variation ID:
55943
Description:
5bp deletion
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NM_000027.4(AGA):c.369_373del (p.His124fs)

Allele ID
70582
Variant type
Deletion
Variant length
5 bp
Cytogenetic location
4q34.3
Genomic location
4: 177439597-177439601 (GRCh38) GRCh38 UCSC
4: 178360751-178360755 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.178360751_178360755del
NC_000004.12:g.177439597_177439601del
NG_011845.2:g.7903_7907del
... more HGVS
Protein change
H124fs
Other names
-
Canonical SPDI
NC_000004.12:177439596:TGTGT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA144019
dbSNP: rs386833424
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 - RCV000049352.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AGA - - GRCh38
GRCh37
248 327

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Aspartylglycosaminuria
Allele origin: not provided
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
Accession: SCV000081784.1
Submitted: (May 19, 2013)
Comment:
FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference
Evidence details
Comment:
Converted during submission to Likely pathogenic.

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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Title Author Journal Year Link
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. Saarela J Human molecular genetics 2001 PMID: 11309371
Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient. Park H The Biochemical journal 1993 PMID: 8457202

Text-mined citations for rs386833424...

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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 Oct 08, 2021