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Variant : CV223680 (GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3) Homo sapiens

Symbol: CV223680
Name: GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3
Condition: See cases [RCV000207454]
Clinical Significance: pathogenic
Last Evaluated: 12/18/2015
Review Status: criteria provided, single submitter
Related Genes: ABCD2   ADAMTS20   ADCY6   ALG10   ALG10B   AMIGO2   ANO6   ANP32D   AQP2   AQP5   ARF3   ARID2   ASB8   BCDIN3D   BICD1   C12orf40   C12orf54   C1QL4   CACNB3   CCDC184   CCDC65   CCNT1   CNTN1   COL2A1   CPNE8   DBX2   DDN   DDX23   DHH   DNAJC22   DNM1L   ENDOU   FAIM2   FAM186B   FGD4   FKBP11   FMNL3   GXYLT1   H1-7   H3-5   HDAC7   IRAK4   KANSL2   KCNH3   KIF21A   KMT2D   LALBA   LMBR1L   LRRK2   MCRS1   MUC19   NCKAP5L   NELL2   OR10AD1   OR8S1   PCED1B   PDZRN4   PFKM   PKP2   PPHLN1   PRICKLE1   PRKAG1   PRPF40B   PRPH   PUS7L   RAPGEF3   RESF1   RHEBL1   RND1   RPAP3   SCAF11   SENP1   SLC2A13   SLC38A1   SLC38A2   SLC38A4   SLC48A1   SPATS2   SYT10   TMBIM6   TMEM106C   TMEM117   TROAP   TUBA1A   TUBA1B   TUBA1C   TWF1   VDR   WNT1   WNT10B   YAF2   YARS2   ZCRB1   ZNF641  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371231,886,971 - 50,360,461CLINVAR
Cytogenetic Map1212p11.21-q13.12CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11039827
Created: 2016-03-08
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.