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Variant : CV72345 (GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1) Homo sapiens

Symbol: CV72345
Name: GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051490]|See cases [RCV000051490]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADCY4   AKAP6   AP1G2   AP4S1   ARHGAP5   ARHGAP5-AS1   BAZ1A   BRMS1L   CARMIL3   CBLN3   CFL2   CHMP4A   CIDEB   CLEC14A   CMA1   COCH   CPNE6   CTSG   DCAF11   DHRS1   DHRS2   DHRS4   DHRS4-AS1   DHRS4L1   DHRS4L2   DTD2   EAPP   EGLN3   EGLN3-AS1   EMC9   FAM177A1   FBXO33   FITM1   FOXA1   FOXG1   FOXG1-AS1   G2E3   G2E3-AS1   GEMIN2   GMPR2   GPR33   GZMB   GZMH   HEATR5A   HECTD1   INSM2   IPO4   IRF9   JPH4   KHNYN   LINC00517   LINC00596   LINC00609   LINC00639   LINC00645   LINC01551   LINC02281   LINC02282   LINC02286   LINC02293   LINC02294   LINC02300   LINC02313   LINC02315   LINC02326   LINC02327   LINC02588   LRFN5   LTB4R   LTB4R2   MBIP   MDP1   MIA2   MIPOL1   MIR3171   MIR4307   MIR4307HG   MIR4503   MIR624   MIR7703   NEDD8   NEDD8-MDP1   NFATC4   NFKBIA   NKX2-1   NKX2-1-AS1   NKX2-8   NOP9   NOVA1   NPAS3   NRL   NUBPL   NYNRIN   PAX9   PCK2   PNN   PPP2R3C   PRKD1   PRORP   PSMA6   PSME1   PSME2   PTCSC3   RABGGTA   RALGAPA1   REC8   RIPK3   RNF31   RNU6-7   RNU6-8   SCFD1   SDR39U1   SEC23A   SEC23A-AS1   SFTA3   SLC25A21   SLC25A21-AS1   SNORA101B   SNORA89   SNX6   SPTSSA   SRP54   SRP54-AS1   SSTR1   STRN3   STXBP6   TGM1   THTPA   TINF2   TM9SF1   TRAPPC6B   TSSK4   TTC6   ZFHX2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_23548960)_(41983402_?)del
NC_000014.8:g.(?_24018169)_(42452605_?)del
NC_000014.7:g.(?_23088009)_(41522355_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381423,548,960 - 41,983,402CLINVAR
GRCh371424,018,169 - 42,452,605CLINVAR
Build 361423,088,009 - 41,522,355CLINVAR
Cytogenetic Map1414q11.2-21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618505
Created: 2014-05-13
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.