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Variant : CV382037 (GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1) Homo sapiens

Symbol: CV382037
Name: GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1
Condition: See cases [RCV000446359]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AADACL3   AADACL4   ACOT7   AGTRAP   AJAP1   ANGPTL7   C1orf127   C1orf158   C1orf167   CA6   CAMTA1   CASZ1   CENPS   CENPS-CORT   CHD5   CLCN6   CLSTN1   CORT   CTNNBIP1   DFFA   DHRS3   DISP3   DNAJC11   DRAXIN   ENO1   ENO1-AS1   ERRFI1   ESPN   EXOSC10   FBXO2   FBXO44   FBXO6   GPR153   GPR157   H6PD   HES2   HES3   HNRNPCL1   HNRNPCL2   ICMT   KCNAB2   KIAA2013   KIF1B   KLHL21   LZIC   MAD2L2   MASP2   MFN2   MIIP   MIR34A   MTHFR   MTOR   NMNAT1   NOL9   NPHP4   NPPA   NPPB   PARK7   PER3   PEX14   PGD   PHF13   PIK3CD   PLEKHG5   PLOD1   PRAMEF1   PRAMEF10   PRAMEF11   PRAMEF12   PRAMEF2   PRAMEF22   PRAMEF4   PRAMEF6   PRAMEF7   RBP7   RERE   RNF207   RPL22   SLC25A33   SLC2A5   SLC2A7   SLC45A1   SPSB1   SRM   TARDBP   TAS1R1   THAP3   TMEM201   TNFRSF1B   TNFRSF25   TNFRSF8   TNFRSF9   UBE4B   UBIAD1   UTS2   VAMP3   VPS13D   ZBTB48  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3714,558,588 - 13,187,457CLINVAR
Cytogenetic Map11p36.32-36.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12851084
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.