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Variant : CV73894 (GRCh38/hg38 3q29(chr3:196280954-197590232)x1) Homo sapiens

Symbol: CV73894
Name: GRCh38/hg38 3q29(chr3:196280954-197590232)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|See cases [RCV000053126]
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   LINC01063   LINC02012   MELTF   MELTF-AS1   MIR4797   NCBP2   NCBP2AS2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   RNF168   RNU6-42P   SENP5   SMCO1   TCTEX1D2   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   UBXN7   UBXN7-AS1   WDR53  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_196280954)_(197590232_?)del
NC_000003.11:g.(?_196007825)_(197317103_?)del
NC_000003.10:g.(?_197492222)_(198801500_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383196,280,954 - 197,590,232CLINVAR
GRCh373196,007,825 - 197,317,103CLINVAR
Build 363197,492,222 - 198,801,500CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620072
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.