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

Variant : CV435653 (GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1) Homo sapiens

Symbol: CV435653
Name: GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1
Condition: See cases [RCV000510444]
Clinical Significance: likely pathogenic
Last Evaluated: 07/14/2015
Review Status: no assertion criteria provided
Related Genes: AADACL3   AADACL4   AGTRAP   ANGPTL7   C1orf127   C1orf158   C1orf167   CASZ1   CLCN6   DHRS3   DISP3   DRAXIN   EXOSC10   FBXO2   FBXO44   FBXO6   HNRNPCL1   KIAA2013   MAD2L2   MASP2   MFN2   MIIP   MTHFR   MTOR   NPPA   NPPB   PLOD1   PRAMEF1   PRAMEF11   PRAMEF12   SRM   TARDBP   TNFRSF1B   TNFRSF8   UBIAD1   VPS13D  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37110,722,955 - 12,910,774CLINVAR
Cytogenetic Map11p36.22-36.21CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13443423
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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