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NEXN, 3-BP DEL, 1948GGA

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Nov 1, 2009
Accession:
VCV000000325.1
Variation ID:
325
Description:
deletion
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NEXN, 3-BP DEL, 1948GGA

Allele ID
15364
Variant type
Deletion
Variant length
-
Cytogenetic location
1p32-p31
Genomic location
-
HGVS
-
Protein change
-
Other names
3-BP DEL, 1948GGA
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 613121.0001
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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 Nov 1, 2009 RCV000000353.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEXN - - GRCh38
GRCh37
372 394

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 01, 2009)
no assertion criteria provided
Method: literature only
CARDIOMYOPATHY, DILATED, 1CC
Allele origin: germline
OMIM
Accession: SCV000020497.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Hassel D Nature medicine 2009 PMID: 19881492

Record last updated Oct 08, 2021