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Variant : CV514838 (NC_000012.11:g.26370251_54361538inv) Homo sapiens

Symbol: CV514838
Name: NC_000012.11:g.26370251_54361538inv
Condition: not specified [RCV000714265]
Clinical Significance: uncertain significance
Last Evaluated: 02/02/2018
Review Status: no assertion criteria provided
Related Genes: AAAS   ABCD2   ACVR1B   ACVRL1   ADAMTS20   ADCY6   ALG10   ALG10B   AMHR2   AMIGO2   AMN1   ANKRD33   ANO6   ANP32D   AQP2   AQP5   AQP6   ARF3   ARID2   ARNTL2   ASB8   ASIC1   ATF1   ATF7   ATG101   ATP5MC2   BCDIN3D   BICD1   BIN2   C12orf10   C12orf40   C12orf54   C12orf71   C1QL4   CACNB3   CALCOCO1   CAPRIN2   CCDC184   CCDC65   CCDC91   CCNT1   CELA1   CERS5   CNTN1   COL2A1   COX14   CPNE8   CSAD   CSRNP2   DAZAP2   DBX2   DDN   DDX11   DDX23   DENND5B   DHH   DIP2B   DNAJC22   DNM1L   EIF4B   ENDOU   ERGIC2   ESPL1   ETFBKMT   FAIM2   FAM186A   FAM186B   FAR2   FGD4   FGFR1OP2   FIGNL2   FKBP11   FMNL3   GALNT6   GPD1   GRASP   GXYLT1   H1-7   H3-5   HDAC7   HIGD1C   HOTAIR   HOXC12   HOXC13   HOXC13-AS   IGFBP6   INTS13   IPO8   IRAK4   ITGB7   ITPR2   KANSL2   KCNH3   KIF21A   KLHL42   KMT2D   KRT1   KRT18   KRT2   KRT3   KRT4   KRT5   KRT6A   KRT6B   KRT6C   KRT7   KRT71   KRT72   KRT73   KRT74   KRT75   KRT76   KRT77   KRT78   KRT79   KRT8   KRT80   KRT81   KRT82   KRT83   KRT84   KRT85   KRT86   LALBA   LARP4   LETMD1   LIMA1   LINC02874   LMBR1L   LRRK2   MANSC4   MAP3K12   MCRS1   MED21   METTL7A   MFSD5   MRPS35   MUC19   NCKAP5L   NELL2   NPFF   NR4A1   OR10AD1   OR8S1   OVCH1   PCBP2   PCED1B   PDZRN4   PFDN5   PFKM   PKP2   POU6F1   PPFIBP1   PPHLN1   PRICKLE1   PRKAG1   PRPF40B   PRPH   PRR13   PTHLH   PUS7L   RACGAP1   RAPGEF3   RARG   REP15   RESF1   RHEBL1   RND1   RPAP3   SCAF11   SCN8A   SENP1   SINHCAF   SLC11A2   SLC2A13   SLC38A1   SLC38A2   SLC38A4   SLC48A1   SLC4A8   SMAGP   SMARCD1   SMCO2   SOAT2   SP1   SP7   SPATS2   SPRYD3   SSPN   STK38L   SYT10   TARBP2   TFCP2   TM7SF3   TMBIM6   TMEM106C   TMEM117   TMPRSS12   TMTC1   TNS2   TROAP   TSPAN11   TUBA1A   TUBA1B   TUBA1C   TWF1   VDR   WNT1   WNT10B   YAF2   YARS2   ZCRB1   ZNF641   ZNF740  
Variant Type: inversion (SO:1000036)
Evidence: research
HGVS Name(s): NC_000012.11:g.26370251_54361538inv
Human AssemblyChrPosition (strand)Source
GRCh371226,370,251 - 54,361,538CLINVAR
Cytogenetic Map1212p12.1-q13.13CLINVAR
Trait Synonyms: AllHighlyPenetrant

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13802347
Created: 2018-11-06
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.