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Variant : CV555829 (GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1) Homo sapiens

Symbol: CV555829
Name: GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1
Condition: not provided [RCV000684134]
Clinical Significance: pathogenic
Last Evaluated: 03/22/2018
Review Status: no assertion criteria provided
Related Genes: ADAM33   ADRA1D   ANKEF1   AP5S1   ATRN   BMP2   BTBD3   C20orf194   C20orf27   CDC25B   CDS2   CENPB   CHGB   CRLS1   DDRGK1   ESF1   FASTKD5   FERMT1   FLRT3   GFRA4   GPCPD1   HAO1   HSPA12B   ISM1   ITPA   JAG1   KIF16B   LAMP5   LRRN4   LZTS3   MACROD2   MAVS   MCM8   MIR103A2   MKKS   NDUFAF5   OTOR   PAK5   PANK2   PCNA   PCNA-AS1   PLCB1   PLCB4   PRND   PRNP   PROKR2   RASSF2   RNF24   SEL1L2   SHLD1   SIGLEC1   SLC23A2   SLC4A11   SLX4IP   SMOX   SNAP25   SNRPB2   SPEF1   SPTLC3   TASP1   TMEM230   TMX4   TRMT6   UBOX5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37203,092,739 - 17,091,453CLINVAR
Cytogenetic Map2020p13-12.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13798234
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-06-23
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.