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Variant : CV73788 (GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3) Homo sapiens

Symbol: CV73788
Name: GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAM33   ADRA1D   ANGPT4   ANKEF1   AP5S1   ATRN   AVP   BMP2   BTBD3   C20orf141   C20orf194   C20orf202   C20orf27   C20orf96   CASC20   CDC25B   CDS2   CENPB   CHGB   CPXM1   CRLS1   CSNK2A1   DDRGK1   DEFB125   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   EBF4   ESF1   FAM110A   FASTKD5   FERMT1   FKBP1A   FKBP1A-SDCBP2   FLRT3   GFRA4   GNRH2   GPCPD1   HAO1   HSPA12B   IDH3B   ISM1   ISM1-AS1   ITPA   JAG1   LAMP5   LAMP5-AS1   LINC00654   LINC00658   LINC00687   LINC01428   LINC01433   LINC01706   LINC01713   LINC01722   LINC01723   LINC01729   LINC01730   LINC01751   LINC01752   LINC02871   LOC643406   LRRN4   LZTS3   MACROD2   MACROD2-IT1   MAVS   MCM8   MCM8-AS1   MIR103A2   MIR103B2   MIR1292   MIR6869   MIR6870   MIR8062   MKKS   MRPS26   NDUFAF5   NOP56   NRSN2   NRSN2-AS1   NSFL1C   OXT   PAK5   PANK2   PCED1A   PCNA   PCNA-AS1   PDYN   PDYN-AS1   PLCB1   PLCB1-IT1   PLCB4   PRND   PRNP   PRNT   PROKR2   PSMF1   PTPRA   RAD21L1   RASSF2   RBCK1   RNF24   RNU105B   RSPO4   SCRT2   SDCBP2   SDCBP2-AS1   SEL1L2   SHLD1   SIGLEC1   SIRPA   SIRPB1   SIRPB2   SIRPD   SIRPG   SIRPG-AS1   SLC23A2   SLC4A11   SLC52A3   SLX4IP   SMOX   SNAP25   SNAP25-AS1   SNORA51   SNORD110   SNORD119   SNORD56   SNORD57   SNORD86   SNPH   SNRPB   SOX12   SPEF1   SPTLC3   SRXN1   STK35   TASP1   TBC1D20   TCF15   TGM3   TGM6   TMC2   TMEM230   TMEM239   TMEM74B   TMX4   TRIB3   TRMT6   UBOX5   UBOX5-AS1   VPS16   ZCCHC3   ZNF343  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_89939)_(14818511_?)dup
NC_000020.10:g.(?_70580)_(14799157_?)dup
NC_000020.9:g.(?_18580)_(14747157_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382089,939 - 14,818,511CLINVAR
GRCh372070,580 - 14,799,157CLINVAR
Build 362018,580 - 14,747,157CLINVAR
Cytogenetic Map2020p13-12.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619962
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.