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Variant : CV383570 (GRCh37/hg19 20p12.3-12.1(chr20:9121901-16858469)x1) Homo sapiens

Symbol: CV383570
Name: GRCh37/hg19 20p12.3-12.1(chr20:9121901-16858469)x1
Condition: See cases [RCV000448674]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ANKEF1   BTBD3   ESF1   FLRT3   ISM1   JAG1   KIF16B   LAMP5   MACROD2   MKKS   NDUFAF5   OTOR   PAK5   PLCB4   SEL1L2   SLX4IP   SNAP25   SNRPB2   SPTLC3   TASP1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37209,121,901 - 16,858,469CLINVAR
Cytogenetic Map2020p12.3-12.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853378
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-03-24
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.