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Variant : CV73443 (GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1) Homo sapiens

Symbol: CV73443
Name: GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052638]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052638]|See cases [RCV000052638]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AGFG1   ALPG   ALPI   ALPP   ARL4C   ARMC9   ATG16L1   B3GNT7   C2orf72   C2orf83   CAB39   CCL20   CHRND   CHRNG   COPS7B   DAW1   DGKD   DIS3L2   DNAJB3   DNER   ECEL1   EFHD1   EIF4E2   FBXO36   GCSIR   GIGYF2   GPR55   HJURP   HTR2B   INPP5D   ITM2C   KCNJ13   LINC00471   LINC01173   LINC01807   LINC01891   LINC01907   MFF   MIR1244-1   MIR1471   MIR4777   MIR5001   MIR562   MIR5703   MROH2A   NCL   NEU2   NGEF   NMUR1   NPPC   PDE6D   PID1   PRSS56   PSMD1   PTMA   SAG   SCARNA5   SCARNA6   SH3BP4   SLC16A14   SLC19A3   SNORA75   SNORC   SNORD20   SNORD82   SP100   SP110   SP140   SP140L   SPATA3   SPATA3-AS1   SPHKAP   SPP2   TEX44   TIGD1   TM4SF20   TRIP12   TRPM8   UGT1A   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   USP40  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_227343278)_(235339168_?)del
Human AssemblyChrPosition (strand)Source
GRCh382227,343,278 - 235,339,168CLINVAR
GRCh372228,207,994 - 236,247,812CLINVAR
Build 362227,916,238 - 235,912,551CLINVAR
Cytogenetic Map22q36.3-37.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8619613
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.