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Variant : CV73893 (GRCh38/hg38 3q29(chr3:196077857-197693741)x1) Homo sapiens

Symbol: CV73893
Name: GRCh38/hg38 3q29(chr3:196077857-197693741)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|See cases [RCV000053125]
Clinical Significance: pathogenic
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   LINC02012   MELTF   MELTF-AS1   MIR4797   MIR922   NCBP2   NCBP2AS2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   RNF168   RNU6-42P   RUBCN   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   UBXN7   UBXN7-AS1   WDR53   ZDHHC19  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_196077857)_(197693741_?)del
NC_000003.11:g.(?_195804728)_(197420612_?)del
NC_000003.10:g.(?_197289125)_(198905009_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383196,077,857 - 197,693,741CLINVAR
GRCh373195,804,728 - 197,420,612CLINVAR
Build 363197,289,125 - 198,905,009CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620071
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.