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Variant : CV71997 (GRCh38/hg38 5p15.33(chr5:138272-710438)x3) Homo sapiens

Symbol: CV71997
Name: GRCh38/hg38 5p15.33(chr5:138272-710438)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051102]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051102]|See cases [RCV000051102]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AHRR   CCDC127   CEP72   EXOC3   EXOC3-AS1   LRRC14B   MIR4456   PDCD6   PLEKHG4B   SDHA   SLC9A3   SLC9A3-AS1   TPPP   ZDHHC11B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.9:g.(?_138387)_(710553_?)dup
NC_000005.8:g.(?_191387)_(763553_?)dup
NC_000005.10:g.(?_138272)_(710438_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh385138,272 - 710,438CLINVAR
GRCh375138,387 - 710,553CLINVAR
Build 365191,387 - 763,553CLINVAR
Cytogenetic Map55p15.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618144
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.