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Variant : CV74576 (GRCh38/hg38 3q29(chr3:195755702-197583580)x3) Homo sapiens

Symbol: CV74576
Name: GRCh38/hg38 3q29(chr3:195755702-197583580)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053853]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053853]|See cases [RCV000053853]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BDH1   CEP19   DLG1   DLG1-AS1   FBXO45   LINC00885   LINC01063   LINC01983   LINC02012   MELTF   MELTF-AS1   MIR4797   MIR6829   MUC4   NCBP2   NCBP2-AS1   NCBP2AS2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   RNF168   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   TNK2   TNK2-AS1   UBXN7   UBXN7-AS1   WDR53   ZDHHC19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_195755702)_(197583580_?)dup
NC_000003.11:g.(?_195482573)_(197310451_?)dup
NC_000003.10:g.(?_196968244)_(198794848_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383195,755,702 - 197,583,580CLINVAR
GRCh373195,482,573 - 197,310,451CLINVAR
Build 363196,968,244 - 198,794,848CLINVAR
Cytogenetic Map33q29CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620768
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.