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Variant : CV555828 (GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3) Homo sapiens

Symbol: CV555828
Name: GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3
Condition: not provided [RCV000684133]
Clinical Significance: pathogenic
Last Evaluated: 03/28/2018
Review Status: no assertion criteria provided
Related Genes: ANKEF1   BTBD3   ESF1   FLRT3   HAO1   ISM1   JAG1   LAMP5   MACROD2   MKKS   NDUFAF5   PAK5   PLCB1   PLCB4   SEL1L2   SLX4IP   SNAP25   SPTLC3   TASP1   TMX4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37207,604,120 - 14,739,025CLINVAR
Cytogenetic Map2020p12.3-12.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13798274
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.