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Variant : CV162044 (GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1) Homo sapiens

Symbol: CV162044
Name: GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1
Condition: See cases [RCV000140873]
Clinical Significance: pathogenic
Last Evaluated: 02/13/2013
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   CLSTN1   CORT   CTNNBIP1   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   LINC02606   LINC02766   LRRC38   LZIC   MAD2L2   MASP2   MFN2   MIIP   MIR4632   MIR5697   MIR6729   MIR6730   MIR7846   MTHFR   MTOR   MTOR-AS1   NMNAT1   NPPA   NPPA-AS1   NPPB   PDPN   PEX14   PGD   PIK3CD   PIK3CD-AS1   PIK3CD-AS2   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   RBP7   RNU5E-1   RSC1A1   SCARNA21B   SLC25A33   SLC25A34   SLC25A34-AS1   SNORA59A   SRM   TARDBP   TMEM201   TMEM51   TMEM51-AS1   TMEM82   TNFRSF1B   TNFRSF8   UBE4B   UBIAD1   UQCRHL   VPS13D  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_9428538)_(15815791_?)del
Human AssemblyChrPosition (strand)Source
GRCh3819,428,538 - 15,815,791CLINVAR
GRCh3719,488,597 - 16,142,286CLINVAR
Build 3619,411,184 - 16,014,873CLINVAR
Cytogenetic Map11p36.22-36.21CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9488401
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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