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Variant : CV435575 (GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1) Homo sapiens

Symbol: CV435575
Name: GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1
Condition: See cases [RCV000512226]
Clinical Significance: likely pathogenic
Last Evaluated: 08/25/2014
Review Status: no assertion criteria provided
Related Genes: AADACL3   AADACL4   AGMAT   AGTRAP   ANGPTL7   C1orf127   C1orf158   C1orf167   CA6   CASP9   CASZ1   CELA2A   CELA2B   CENPS   CENPS-CORT   CLCN6   CLSTN1   CORT   CTNNBIP1   CTRC   DDI2   DFFA   DHRS3   DISP3   DNAJC16   DRAXIN   EFHD2   ENO1   ENO1-AS1   EXOSC10   FBLIM1   FBXO2   FBXO44   FBXO6   FHAD1   GPR157   H6PD   HNRNPCL1   HNRNPCL2   KAZN   KIAA2013   KIF1B   LRRC38   LZIC   MAD2L2   MASP2   MFN2   MIIP   MIR34A   MTHFR   MTOR   NMNAT1   NPPA   NPPB   PDPN   PEX14   PGD   PIK3CD   PLEKHM2   PLOD1   PRAMEF1   PRAMEF10   PRAMEF11   PRAMEF12   PRAMEF13   PRAMEF15   PRAMEF17   PRAMEF18   PRAMEF19   PRAMEF2   PRAMEF20   PRAMEF22   PRAMEF4   PRAMEF5   PRAMEF6   PRAMEF7   PRAMEF8   PRAMEF9   PRDM2   RBP7   RERE   RSC1A1   SLC25A33   SLC25A34   SLC2A5   SLC2A7   SPEN   SPSB1   SRM   TARDBP   TMEM201   TMEM51   TMEM82   TNFRSF1B   TNFRSF8   UBE4B   UBIAD1   VPS13D   ZBTB17  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3718,850,514 - 16,272,383CLINVAR
Cytogenetic Map11p36.23-36.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13445192
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-01-21
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.