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Variant : CV553944 (GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3) Homo sapiens

Symbol: CV553944
Name: GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3
Condition: not provided [RCV000682249]
Clinical Significance: pathogenic
Last Evaluated: 10/20/2017
Review Status: no assertion criteria provided
Related Genes: ABHD5   ACAA1   ACKR2   ACVR2B   ANO10   ARPP21   AZI2   C3orf35   CCDC13   CCK   CCR4   CCR8   CDCP1   CLASP2   CLEC3B   CMC1   CMTM6   CMTM7   CMTM8   CNOT10   CRTAP   CSRNP1   CTDSPL   CTNNB1   CX3CR1   CYP8B1   DCLK3   DLEC1   DYNC1LI1   EFHB   EIF1B   ENTPD3   EOMES   EPM2AIP1   EXOG   EXOSC7   FBXL2   GADL1   GASK1A   GLB1   GOLGA4   GORASP1   GPD1L   HHATL   HIGD1A   ITGA9   KAT2B   KCNH8   KIAA1143   KIF15   KLHL40   KRBOX1   KRBOX1-AS1   LRRC3B   LRRFIP2   LYZL4   MIR128-2   MIR138-1   MIR26A1   MLH1   MOBP   MYD88   MYRIP   NEK10   NGLY1   NKIRAS1   NKTR   NR1D2   OSBPL10   OXSM   OXSR1   PDCD6IP   PLCD1   PLCL2   POMGNT2   PP2D1   RAB5A   RARB   RBMS3   RPL14   RPL15   RPSA   SATB1   SCN10A   SCN11A   SCN5A   SEC22C   SGO1   SLC22A13   SLC22A14   SLC25A38   SLC4A7   SNORA62   SNRK   SS18L2   STAC   STT3B   SUSD5   TBC1D5   TCAIM   TGFBR2   TGM4   THRB   TMEM42   TMPPE   TOP2B   TOPAZ1   TRAK1   TRANK1   TRIM71   TTC21A   UBE2E1   UBE2E2   UBP1   ULK4   VILL   VIPR1   WDR48   XIRP1   XYLB   ZBTB47   ZCWPW2   ZDHHC3   ZKSCAN7   ZNF197   ZNF35   ZNF385D   ZNF445   ZNF501   ZNF502   ZNF619   ZNF620   ZNF621   ZNF660   ZNF662   ZNF852   ZNF860  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37316,923,595 - 45,249,923CLINVAR
Cytogenetic Map33p24.3-21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13795026
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.