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Variant : CV71713 (GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1) Homo sapiens

Symbol: CV71713
Name: GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050750]|See cases [RCV000050750]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB8   ABCF2   ACTR3C   AGAP3   AOC1   ARHGEF35   ARHGEF35-AS1   ARHGEF5   ASB10   ASIC3   ATG9B   ATP6V0E2   ATP6V0E2-AS1   C7orf33   CDK5   CHPF2   CNTNAP2   CNTNAP2-AS1   CRYGN   CTAGE4   CTAGE8   CUL1   EZH2   FASTK   GALNT11   GALNTL5   GBX1   GHET1   GIMAP1   GIMAP1-GIMAP5   GIMAP2   GIMAP4   GIMAP5   GIMAP6   GIMAP7   GIMAP8   H2BE1   IQCA1L   KCNH2   KMT2C   KRBA1   LINC00996   LINC01003   LRRC61   MIR3907   MIR548F4   MIR671   NOBOX   NOS3   NUB1   OR2A1   OR2A1-AS1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A42   OR2A5   OR2A7   OR2F1   OR2F2   OR6B1   PDIA4   PRKAG2   PRKAG2-AS1   RARRES2   REPIN1   RHEB   RNY1   RNY3   RNY4   RNY5   SLC4A2   SMARCD3   TCAF1   TMEM176A   TMEM176B   TMUB1   TPK1   TRC-GCA1-1   TRC-GCA10-1   TRC-GCA11-1   TRC-GCA12-1   TRC-GCA13-1   TRC-GCA15-1   TRC-GCA16-1   TRC-GCA17-1   TRC-GCA18-1   TRC-GCA19-1   TRC-GCA20-1   TRC-GCA21-1   TRC-GCA22-1   TRC-GCA23-1   TRC-GCA3-1   TRC-GCA9-2   TRC-GCA9-3   TRC-GCA9-4   TRS-AGA5-1   WDR86   WDR86-AS1   XRCC2   ZBED6CL   ZNF212   ZNF282   ZNF398   ZNF425   ZNF467   ZNF746   ZNF775   ZNF777   ZNF783   ZNF786   ZNF862  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_143884559)_(152674271_?)del
NC_000007.13:g.(?_143581652)_(152371356_?)del
NC_000007.12:g.(?_143212585)_(152002289_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh387143,884,559 - 152,674,271CLINVAR
GRCh377143,581,652 - 152,371,356CLINVAR
Build 367143,212,585 - 152,002,289CLINVAR
Cytogenetic Map77q35-36.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617832
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.