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Variant : CV73144 (GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1) Homo sapiens

Symbol: CV73144
Name: GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   APTR   ASL   AUTS2   BAZ1B   BCL7B   BUD23   CALN1   CASTOR2   CCDC146   CCL24   CCL26   CLDN3   CLDN4   CLIP2   CRCP   DNAJC30   DTX2   EIF4H   ELN   ERV3-1   FGL2   FKBP6   FZD9   GALNT17   GSAP   GTF2I   GTF2IP23   GTF2IRD1   GTF2IRD2   GTF2IRD2B   GUSB   HIP1   HSPB1   KCTD7   LAT2   LIMK1   LINC00174   LINC01372   LOC441242   MAGI2   MAGI2-AS2   MDH2   METTL27   MIR3914-1   MIR3914-2   MIR4284   MIR4650-1   MIR4650-2   MIR4651   MIR590   MIR6839   MLXIPL   NCF1   NSUN5   PHTF2   POM121   POM121C   POMZP3   POR   PTPN12   RABGEF1   RCC1L   RFC2   RHBDD2   RSBN1L   SBDS   SNORA14A   SNORA22   SPDYE11   SPDYE16   SPDYE17   SPDYE18   SPDYE5   SRRM3   SSC4D   STX1A   STYXL1   TBL2   TMEM120A   TMEM248   TMEM270   TMEM60   TPST1   TRIM50   TRIM73   TRIM74   TYW1   TYW1B   UPK3B   VKORC1L1   VPS37D   YWHAG   ZNF107   ZNF117   ZNF138   ZNF273   ZNF680   ZNF92   ZP3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_64560824)_(79186156_?)del
NC_000007.13:g.(?_64021202)_(78815472_?)del
NC_000007.12:g.(?_63658637)_(78653408_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38764,560,824 - 79,186,156CLINVAR
GRCh37764,021,202 - 78,815,472CLINVAR
Build 36763,658,637 - 78,653,408CLINVAR
Cytogenetic Map77q11.21-21.11CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8619311
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.