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Variant : CV71811 (GRCh38/hg38 3q29(chr3:196013486-197590232)x3) Homo sapiens

Symbol: CV71811
Name: GRCh38/hg38 3q29(chr3:196013486-197590232)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|See cases [RCV000050877]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter
Related Genes: BDH1   CEP19   DLG1   FBXO45   MELTF   NCBP2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   RNF168   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   UBXN7   WDR53   ZDHHC19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_196013486)_(197590232_?)dup
NC_000003.11:g.(?_195740357)_(197317103_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383196,013,486 - 197,590,232CLINVAR
GRCh373195,740,357 - 197,317,103CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8617942
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2014-12-02
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.