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NM_144696.6(AXDND1):c.3032-3060C>T

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jul 31, 2017
Accession:
VCV000552959.1
Variation ID:
552959
Description:
single nucleotide variant
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NM_144696.6(AXDND1):c.3032-3060C>T

Allele ID
540650
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q25.2
Genomic location
1: 179551452 (GRCh38) GRCh38 UCSC
1: 179520587 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.179520587C>T
NC_000001.11:g.179551452C>T
NM_144696.6:c.3032-3060C>T
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs776016942
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jul 31, 2017 RCV000668314.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AXDND1 - - - GRCh38
GRCh37
14 92
NPHS2 - - GRCh38
GRCh37
90 169

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 31, 2017)
criteria provided, single submitter
Method: clinical testing
Nephrotic syndrome, idiopathic, steroid-resistant
Allele origin: unknown
Counsyl
Accession: SCV000792892.1
Submitted: (Jul 10, 2018)
Evidence details

Citations for this variant

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

Record last updated Dec 27, 2019