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ATP6V0A2, 1-BP INS, 100A

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 29, 2013)
Last evaluated:
Nov 1, 2012
Accession:
VCV000039453.1
Variation ID:
39453
Description:
insertion
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ATP6V0A2, 1-BP INS, 100A

Allele ID
48052
Variant type
Insertion
Variant length
-
Cytogenetic location
12q24.3
Genomic location
-
HGVS
-
Protein change
-
Other names
1-BP INS, 100A
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 611716.0005
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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, 2012 RCV000032648.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP6V0A2 - - GRCh38
GRCh37
363 397

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 01, 2012)
no assertion criteria provided
Method: literature only
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA
Allele origin: germline
OMIM
Accession: SCV000056411.2
Submitted: (Jan 29, 2013)
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
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Fischer B Human genetics 2012 PMID: 22773132

Record last updated Apr 08, 2021