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Variant : CV73771 (GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3) Homo sapiens

Symbol: CV73771
Name: GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052976]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052976]|See cases [RCV000052976]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACKR3   AGAP1   AGAP1-IT1   AGXT   ANKMY1   ANO7   AQP12A   AQP12B   ASB1   ASB18   ATG4B   BOK   BOK-AS1   CAPN10   CAPN10-DT   COL6A3   COPS8   COPS9   CROCC2   D2HGDH   DTYMK   DUSP28   ERFE   ESPNL   FARP2   GAL3ST2   GBX2   GPC1   GPR35   HDAC4   HDAC4-AS1   HDLBP   HES6   ILKAP   ING5   IQCA1   KIF1A   KLHL30   LINC01107   LINC01237   LINC01238   LINC01880   LINC01881   LINC01937   LINC01940   LINC02610   LOC285097   LRRFIP1   MAB21L4   MIR149   MIR2467   MIR3133   MIR4269   MIR4440   MIR4441   MIR4786   MIR6811   MLPH   MTERF4   NDUFA10   NEU4   OR6B2   OR6B3   OTOS   PASK   PDCD1   PER2   PPP1R7   PRLH   PRR21   RAB17   RAMP1   RBM44   RNPEPL1   RTP5   SCLY   SEPTIN2   SNED1   STK25   THAP4   TNRC17   TRAF3IP1   TWIST2   UBE2F   UBE2F-SCLY  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_235268768)_(242126245_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382235,268,768 - 242,126,245CLINVAR
GRCh372236,177,412 - 243,059,659CLINVAR
Build 362235,842,151 - 242,717,069CLINVAR
Cytogenetic Map22q37.2-37.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8619945
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.