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1q41 duplication

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 3, 2018)
Last evaluated:
Aug 1, 2018
Accession:
VCV000562154.2
Variation ID:
562154
Description:
duplication
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1q41 duplication

Allele ID
553328
Variant type
Duplication
Variant length
-
Cytogenetic location
1q41
Genomic location
-
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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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 Aug 1, 2018 RCV000754685.1
Help No affected genes found.

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 01, 2018)
criteria provided, single submitter
Method: research
Autism spectrum disorder
Allele origin: de novo
Liping Wei Laboratory,Peking University
Accession: SCV000804777.2
Submitted: (Aug 03, 2018)
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
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. Zhou WZ Human mutation 2019 PMID: 30763456

Record last updated Nov 10, 2021