Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV164604 (GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3) Homo sapiens

Symbol: CV164604
Name: GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3
Condition: See cases [RCV000142917]
Clinical Significance: pathogenic
Last Evaluated: 10/24/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM33   ADRA1D   AP5S1   ATRN   AVP   BMP2   C20orf141   C20orf194   C20orf27   CASC20   CDC25B   CDS2   CENPB   CHGB   CPXM1   CRLS1   DDRGK1   EBF4   FASTKD5   FERMT1   FKBP1A   FKBP1A-SDCBP2   GFRA4   GNRH2   GPCPD1   HAO1   HSPA12B   IDH3B   ITPA   LINC00654   LINC00658   LINC01428   LINC01433   LINC01706   LINC01713   LINC01729   LINC01730   LINC01751   LOC643406   LRRN4   LZTS3   MAVS   MCM8   MCM8-AS1   MIR103A2   MIR103B2   MIR1292   MIR6869   MIR8062   MRPS26   NOP56   NSFL1C   OXT   PANK2   PCED1A   PCNA   PCNA-AS1   PDYN   PDYN-AS1   PLCB1   PLCB1-IT1   PRND   PRNP   PRNT   PROKR2   PTPRA   RASSF2   RNF24   SDCBP2   SDCBP2-AS1   SHLD1   SIGLEC1   SIRPA   SIRPB1   SIRPB2   SIRPD   SIRPG   SIRPG-AS1   SLC23A2   SLC4A11   SMOX   SNORA51   SNORD110   SNORD119   SNORD56   SNORD57   SNORD86   SNPH   SNRPB   SPEF1   STK35   TGM3   TGM6   TMC2   TMEM230   TMEM239   TMX4   TRMT6   UBOX5   UBOX5-AS1   VPS16   ZNF343  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_1269303)_(8626911_?)dup
NC_000020.10:g.(?_1249947)_(8607558_?)dup
NC_000020.9:g.(?_1197947)_(8555558_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38201,269,303 - 8,626,911CLINVAR
GRCh37201,249,947 - 8,607,558CLINVAR
Build 36201,197,947 - 8,555,558CLINVAR
Cytogenetic Map2020p13-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490515
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.