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Variant : CV164593 (GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3) Homo sapiens

Symbol: CV164593
Name: GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3
Condition: See cases [RCV000142906]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AADACL3   AADACL4   AGMAT   AGTRAP   ANGPTL7   C1orf127   C1orf158   C1orf167   C1orf167-AS1   C1orf195   CA6   CAMTA1   CAMTA1-AS1   CAMTA1-AS2   CAMTA1-DT   CAMTA1-IT1   CASP9   CASZ1   CELA2A   CELA2B   CENPS   CENPS-CORT   CLCN6   CLCNKA   CLCNKB   CLSTN1   CORT   CTNNBIP1   CTRC   DDI2   DFFA   DHRS3   DISP3   DNAJC11   DNAJC16   DRAXIN   EFHD2   ENO1   ENO1-AS1   ERRFI1   EXOSC10   EXOSC10-AS1   FBLIM1   FBXO2   FBXO44   FBXO6   FHAD1   FHAD1-AS1   GPR157   H6PD   HNRNPCL1   HNRNPCL2   HNRNPCL3   HNRNPCL4   HSPB7   KAZN   KAZN-AS1   KIAA2013   KIF1B   KLHL21   LINC01647   LINC01672   LINC01714   LINC01784   LINC02606   LINC02766   LNCTAM34A   LRRC38   LZIC   MAD2L2   MASP2   MFN2   MIIP   MIR34A   MIR34AHG   MIR4632   MIR5697   MIR6728   MIR6729   MIR6730   MIR7846   MTHFR   MTOR   MTOR-AS1   NMNAT1   NPPA   NPPA-AS1   NPPB   PARK7   PDPN   PER3   PEX14   PGD   PHF13   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   RERE   RERE-AS1   RNU5E-1   RSC1A1   SCARNA21B   SLC25A33   SLC25A34   SLC25A34-AS1   SLC2A5   SLC2A7   SLC45A1   SNORA59A   SNORD128   SPEN   SPSB1   SRARP   SRM   TARDBP   TAS1R1   THAP3   TMEM201   TMEM51   TMEM51-AS1   TMEM82   TNFRSF1B   TNFRSF8   TNFRSF9   UBE4B   UBIAD1   UQCRHL   UTS2   VAMP3   VPS13D   ZBTB17   ZBTB48  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_6554885)_(16056011_?)dup
NC_000001.10:g.(?_6614945)_(16382506_?)dup
NC_000001.9:g.(?_6537532)_(16255093_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3816,554,885 - 16,056,011CLINVAR
GRCh3716,614,945 - 16,382,506CLINVAR
Build 3616,537,532 - 16,255,093CLINVAR
Cytogenetic Map11p36.31-36.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490504
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.