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Variant : CV164458 (GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1) Homo sapiens

Symbol: CV164458
Name: GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1
Condition: See cases [RCV000142771]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AADACL3   AADACL4   ACOT7   ACTL8   AGMAT   AGTRAP   ANGPTL7   ARHGEF10L   ARHGEF19   ATP13A2   C1orf127   C1orf158   C1orf167   C1orf167-AS1   C1orf195   CA6   CAMTA1   CAMTA1-AS1   CAMTA1-AS2   CAMTA1-DT   CAMTA1-IT1   CASP9   CASZ1   CELA2A   CELA2B   CENPS   CENPS-CORT   CHD5   CLCN6   CLCNKA   CLCNKB   CLSTN1   CORT   CPLANE2   CROCC   CTNNBIP1   CTRC   DDI2   DFFA   DHRS3   DISP3   DNAJC11   DNAJC16   DRAXIN   EFHD2   ENO1   ENO1-AS1   EPHA2   ERRFI1   ESPN   EXOSC10   EXOSC10-AS1   FAM131C   FBLIM1   FBXO2   FBXO42   FBXO44   FBXO6   FHAD1   FHAD1-AS1   GPR153   GPR157   H6PD   HES2   HES3   HNRNPCL1   HNRNPCL2   HNRNPCL3   HNRNPCL4   HSPB7   ICMT   IGSF21   IGSF21-AS1   KAZN   KAZN-AS1   KCNAB2   KIAA2013   KIF1B   KLHL21   LINC00337   LINC01647   LINC01654   LINC01672   LINC01714   LINC01772   LINC01783   LINC01784   LINC02606   LINC02766   LINC02783   LNCTAM34A   LRRC38   LZIC   MAD2L2   MASP2   MFAP2   MFN2   MIIP   MIR34A   MIR34AHG   MIR3675   MIR3972   MIR4252   MIR4632   MIR4689   MIR5697   MIR6728   MIR6729   MIR6730   MIR7846   MST1L   MTHFR   MTOR   MTOR-AS1   NBPF1   NECAP2   NMNAT1   NOL9   NPHP4   NPPA   NPPA-AS1   NPPB   PADI1   PADI2   PADI3   PADI4   PADI6   PARK7   PDPN   PER3   PEX14   PGD   PHF13   PIK3CD   PIK3CD-AS1   PIK3CD-AS2   PLEKHG5   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   RCC2   RERE   RERE-AS1   RNF207   RNU1-1   RNU1-2   RNU1-3   RNU1-4   RNU5E-1   RPL22   RSC1A1   SCARNA21B   SDHB   SLC25A33   SLC25A34   SLC25A34-AS1   SLC2A5   SLC2A7   SLC45A1   SNORA59A   SNORD128   SPATA21   SPEN   SPSB1   SRARP   SRM   SZRD1   TARDBP   TAS1R1   THAP3   TMEM201   TMEM51   TMEM51-AS1   TMEM82   TNFRSF1B   TNFRSF25   TNFRSF8   TNFRSF9   TRE-TTC3-1   TRG-CCC1-2   TRG-CCC5-1   TRN-GTT13-1   TRN-GTT4-1   TRNAG1   TRQ-CTG14-1   UBE4B   UBIAD1   UQCRHL   UTS2   VAMP3   VPS13D   ZBTB17   ZBTB48  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_5363826)_(18360302_?)del
NC_000001.10:g.(?_5423886)_(18686796_?)del
NC_000001.9:g.(?_5323746)_(18559383_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,363,826 - 18,360,302CLINVAR
GRCh3715,423,886 - 18,686,796CLINVAR
Build 3615,323,746 - 18,559,383CLINVAR
Cytogenetic Map11p36.31-36.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490369
Created: 2014-09-09
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.