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Variant : CV73365 (GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1) Homo sapiens

Symbol: CV73365
Name: GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052558]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052558]|See cases [RCV000052558]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AGPS   ALS2   ANKAR   ANKRD44   ANKRD44-AS1   ANKRD44-IT1   AOX1   ASDURF   ASNSD1   BOLL   BZW1   BZW1-AS1   C2CD6   C2orf66   C2orf69   C2orf88   CALCRL   CASP10   CASP8   CAVIN2   CAVIN2-AS1   CCDC141   CCDC150   CDK15   CERKL   CFLAR   CFLAR-AS1   CHROMR   CLK1   COL3A1   COL5A2   COQ10B   CWC22   DIRC1   DNAH7   DNAJC10   DUSP19   FAM126B   FAM171B   FKBP7   FLACC1   FRZB   FSIP2   FSIP2-AS1   FSIP2-AS2   FTCDNL1   FZD7   GLS   GTF3C3   GULP1   HECW2   HECW2-AS1   HIBCH   HNRNPA3   HSPD1   HSPE1   HSPE1-MOB4   INPP1   ITGA4   ITGAV   ITPRID2   KCTD18   LINC01090   LINC01116   LINC01117   LINC01473   LINC01790   LINC01792   LINC01821   LINC01827   LINC01877   LINC01923   LINC01934   MAIP1   MARS2   MFSD6   MIR1245A   MIR1245B   MIR1246   MIR1258   MIR3128   MIR3129   MIR3606   MIR4437   MIR4444-1   MIR548AE1   MIR561   MIR6512   MOB4   MPP4   MSTN   MTX2   MYO1B   NAB1   NABP1   NCKAP1   NDUFB3   NEMP2   NEUROD1   NFE2L2   NIF3L1   NUP35   ORC2   ORMDL1   OSBPL6   OSGEPL1   OSGEPL1-AS1   PCGEM1   PDE11A   PDE11A-AS1   PDE1A   PGAP1   PJVK   PLCL1   PLEKHA3   PMS1   PPIL3   PPP1R1C   PRKRA   RBM45   RFTN2   SATB2   SATB2-AS1   SCHLAP1   SESTD1   SF3B1   SGO2   SLC39A10   SLC40A1   SNORA105B   SPATS2L   STAT1   STAT4   STK17B   STRADB   TFPI   TMEFF2   TMEM237   TRAK2   TTC30A   TTC30B   TTN   TTN-AS1   TYW5   UBE2E3   WDR75   ZC3H15   ZNF385B   ZNF804A   ZSWIM2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_176304445)_(202039790_?)del
NC_000002.11:g.(?_177169173)_(202904513_?)del
NC_000002.10:g.(?_176877419)_(202612758_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382176,304,445 - 202,039,790CLINVAR
GRCh372177,169,173 - 202,904,513CLINVAR
Build 362176,877,419 - 202,612,758CLINVAR
Cytogenetic Map22q31.1-33.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619534
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.