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Variant : CV162688 (GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1) Homo sapiens

Symbol: CV162688
Name: GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1
Condition: See cases [RCV000141438]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AADACL3   AADACL4   AGMAT   AGTRAP   ANGPTL7   C1orf127   C1orf158   C1orf167   C1orf167-AS1   C1orf195   CASP9   CASZ1   CELA2A   CELA2B   CENPS   CENPS-CORT   CLCN6   CORT   CTRC   DDI2   DFFA   DHRS3   DISP3   DNAJC16   DRAXIN   EFHD2   EXOSC10   EXOSC10-AS1   FBLIM1   FBXO2   FBXO44   FBXO6   FHAD1   FHAD1-AS1   HNRNPCL1   HNRNPCL2   HNRNPCL3   HNRNPCL4   KAZN   KAZN-AS1   KIAA2013   KIF1B   LINC01647   LINC01784   LINC02766   LRRC38   MAD2L2   MASP2   MFN2   MIIP   MIR4632   MIR6729   MIR6730   MIR7846   MTHFR   MTOR   MTOR-AS1   NPPA   NPPA-AS1   NPPB   PDPN   PEX14   PGD   PLEKHM2   PLOD1   PRAMEF1   PRAMEF10   PRAMEF11   PRAMEF12   PRAMEF13   PRAMEF14   PRAMEF15   PRAMEF17   PRAMEF18   PRAMEF19   PRAMEF2   PRAMEF20   PRAMEF25   PRAMEF26   PRAMEF27   PRAMEF33   PRAMEF4   PRAMEF5   PRAMEF6   PRAMEF7   PRAMEF8   PRAMEF9   PRDM2   RNU5E-1   RSC1A1   SCARNA21B   SLC25A34   SLC25A34-AS1   SNORA59A   SRM   TARDBP   TMEM51   TMEM51-AS1   TMEM82   TNFRSF1B   TNFRSF8   UBIAD1   VPS13D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_10264397)_(15780840_?)del
NC_000001.10:g.(?_10324455)_(16107335_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38110,264,397 - 15,780,840CLINVAR
GRCh37110,324,455 - 16,107,335CLINVAR
Build 36110,247,042 - 15,979,922CLINVAR
Cytogenetic Map11p36.22-36.21CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488963
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.