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Variant : CV73852 (GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1) Homo sapiens

Symbol: CV73852
Name: GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BCR   BCRP4   C22orf15   CABIN1   CCDC116   CHCHD10   DDT   DDTL   DERL3   DRICH1   FAM230I   GGT5   GGTLC2   GNAZ   GSTT2   GSTT2B   IGL   IGLC1   IGLC2   IGLC3   IGLC7   IGLJ1   IGLJ2   IGLJ3   IGLJ4   IGLJ5   IGLJ6   IGLJ7   IGLL1   IGLL5   IGLV1-36   IGLV1-40   IGLV1-44   IGLV1-47   IGLV1-50   IGLV1-51   IGLV10-54   IGLV11-55   IGLV2-11   IGLV2-14   IGLV2-18   IGLV2-23   IGLV2-33   IGLV2-8   IGLV3-1   IGLV3-10   IGLV3-12   IGLV3-16   IGLV3-19   IGLV3-21   IGLV3-22   IGLV3-25   IGLV3-27   IGLV3-32   IGLV3-9   IGLV4-3   IGLV4-60   IGLV4-69   IGLV5-37   IGLV5-45   IGLV5-48   IGLV5-52   IGLV6-57   IGLV7-43   IGLV7-46   IGLV8-61   IGLV9-49   IGLVVI-22-1   LINC01659   LINC02556   LINC02557   MAPK1   MIF   MIF-AS1   MIR130B   MIR301B   MIR5571   MIR650   MMP11   PCAT14   PPIL2   PPM1F   PRAME   PRAMENP   RAB36   RGL4   RIMBP3C   RSPH14   SDF2L1   SLC2A11   SMARCB1   SPECC1L   SPECC1L-ADORA2A   SUSD2   TMEM191C   TOP3B   UBE2L3   VPREB1   VPREB3   YDJC   YPEL1   ZNF280A   ZNF280B   ZNF70  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_21454661)_(24289119_?)del
NC_000022.10:g.(?_21808950)_(24685087_?)del
NC_000022.9:g.(?_20138950)_(23015087_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382221,454,661 - 24,289,119CLINVAR
GRCh372221,808,950 - 24,685,087CLINVAR
Build 362220,138,950 - 23,015,087CLINVAR
Cytogenetic Map2222q11.21-11.23CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620027
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.