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Gene: LOC108004532 (3q13.2-q13.31 distal HERV-H recombination region) Homo sapiens
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Symbol: LOC108004532
Name: 3q13.2-q13.31 distal HERV-H recombination region
RGD ID: 38674919
Description: This region is known to undergo non-allelic homologous recombination (NAHR) with another region, containing a similar human endogenous retrovirus (HERV) element about 3.4 Mb centromere-proximal to this region, on the q arm of chromosome 3. Recombination with the 3q13.2-q13.31 proximal HERV-H recombination region can result in deletions of the intervening sequence, and is a cause of 3q13.31 deletion syndrome. This syndrome can present with a range of phenotypes, but many individuals with this microdeletion have motor and language delays, hypotonia, variable cognitive impairment and dysmorphic features. While deletions of variable sizes have been described in this genomic region region, this region represents the recombination region observed in the recurrent 3.4 Mb deletion in the 3q13.2-q13.31 region. Recombination breakpoints of individuals with the recurrent microdeletion are indicated as sub-regions on the record. [provided by RefSeq, Jun 2016]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383115,795,688 - 115,798,714 (+)NCBIGRCh38GRCh38hg38GRCh38
Cytogenetic Map3q13.31NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


References - uncurated

Genomics


Expression


Sequence

Nucleotide Sequences
Clinical Variants

Additional Information

External Database Links
 
More on LOC108004532
NCBI Gene
Ensembl Gene
JBrowse: hg38
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 38674919
Created: 2020-09-16
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.