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Variant : CV437547 (GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1) Homo sapiens

Symbol: CV437547
Name: GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1
Condition: See cases [RCV000511897]
Clinical Significance: pathogenic
Last Evaluated: 11/12/2013
Review Status: no assertion criteria provided
Related Genes: ADAM33   ADRA1D   AP5S1   ATRN   AVP   BMP2   C20orf141   C20orf194   C20orf27   CDC25B   CDS2   CENPB   CHGB   CPXM1   CRLS1   DDRGK1   EBF4   FASTKD5   FERMT1   GFRA4   GNRH2   GPCPD1   HAO1   HSPA12B   IDH3B   ITPA   LRRN4   LZTS3   MAVS   MCM8   MIR103A2   MIR1292   MRPS26   NOP56   OXT   PANK2   PCED1A   PCNA   PCNA-AS1   PLCB1   PRND   PRNP   PROKR2   PTPRA   RASSF2   RNF24   SHLD1   SIGLEC1   SLC23A2   SLC4A11   SMOX   SPEF1   TMC2   TMEM230   TMEM239   TMX4   TRMT6   UBOX5   VPS16   ZNF343  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37202,463,101 - 8,185,680CLINVAR
Cytogenetic Map2020p13-12.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13444866
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE


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