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46;XY;t(18;20)(q21.1;p11.23)dn

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Nov 13, 2016
Most recent Submission:
Nov 13, 2016
Last evaluated:
Aug 20, 2016
Accession:
VCV000268042.1
Variation ID:
268042
Description:
translocation
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46;XY;t(18;20)(q21.1;p11.23)dn

Allele ID
263418
Variant type
Translocation
Variant length
-
Cytogenetic location
18q21.1
20p11.23
Genomic location
-
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
Help No affected genes found.

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
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Redin C Nature genetics 2017 PMID: 27841880

Record last updated Apr 15, 2023