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Variant : CV73593 (GRCh38/hg38 20q11.21(chr20:31289875-32302312)x3) Homo sapiens

Symbol: CV73593
Name: GRCh38/hg38 20q11.21(chr20:31289875-32302312)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052792]|See cases [RCV000052792]
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: ABALON   BCL2L1   CCM2L   COX4I2   DEFB116   DEFB118   DEFB119   DEFB121   DEFB122   DEFB123   DEFB124   DUSP15   FOXS1   HCK   HM13   HM13-AS1   ID1   KIF3B   LINC00028   MIR1825   MIR3193   MYLK2   PDRG1   PLAGL2   POFUT1   REM1   TM9SF4   TPX2   TTLL9   XKR7  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_31289875)_(32302312_?)dup
NC_000020.10:g.(?_29877678)_(30890115_?)dup
NC_000020.9:g.(?_29341339)_(30353776_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382031,289,875 - 32,302,312CLINVAR
GRCh372029,877,678 - 30,890,115CLINVAR
Build 362029,341,339 - 30,353,776CLINVAR
Cytogenetic Map2020q11.21CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8619765
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.