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Variant : CV74832 (GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1) Homo sapiens

Symbol: CV74832
Name: GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054111]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054111]|See cases [RCV000054111]
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   AUTS2   BAZ1B   BCL7B   BUD23   CALN1   CASTOR2   CCDC146   CCL24   CCL26   CLDN3   CLDN4   CLIP2   CT66   DNAJC30   DTX2   EIF4H   ELN   FGL2   FKBP6   FZD9   GALNT17   GSAP   GTF2I   GTF2IRD1   GTF2IRD2   GTF2IRD2B   HIP1   HSPB1   LAT2   LIMK1   MDH2   METTL27   MIR10525   MIR3914-1   MIR3914-2   MIR4284   MIR4650-2   MIR4651   MIR590   MLXIPL   NCF1   NSUN5   PHTF2   POM121   POM121C   POMZP3   POR   PTPN12   RCC1L   RFC2   RHBDD2   RSBN1L   SNORA14A   SPDYE11   SPDYE16   SPDYE17   SPDYE18   SPDYE5   SRRM3   SSC4D   STX1A   STYXL1   TBL2   TMEM120A   TMEM270   TMEM60   TRIM50   TRIM73   TRIM74   TYW1B   UPK3B   VPS37D   YWHAG   ZP3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_69382353)_(77823832_?)del
NC_000007.13:g.(?_68847339)_(77453149_?)del
NC_000007.12:g.(?_68485275)_(77291085_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38769,382,353 - 77,823,832CLINVAR
GRCh37768,847,339 - 77,453,149CLINVAR
Build 36768,485,275 - 77,291,085CLINVAR
Cytogenetic Map77q11.22-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8621024
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.