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Variant : CV71752 (GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1) Homo sapiens

Symbol: CV71752
Name: GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1
Condition: Expressive language delay [RCV000050807]|See cases [RCV000050807]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACACB   ACAD10   ALDH2   ALKBH2   ANAPC7   ANKRD13A   APPL2   ARPC3   ASCL4   ATP2A2   ATXN2   ATXN2-AS   BRAP   BTBD11   C12orf75   C12orf76   CASC18   CCDC63   CKAP4   CMKLR1   CORO1C   CRY1   CUX2   DAO   ERP29   FAM216A   FAM222A   FAM222A-AS1   FICD   FOXN4   GIT2   GLTP   GPN3   HECTD4   HVCN1   IFT81   ISCU   KCTD10   LINC01405   LINC01486   LINC01498   LINC02356   MAPKAPK5   MAPKAPK5-AS1   MIR3657   MIR4496   MIR4497   MIR619   MIR6760   MIR6761   MIR6861   MMAB   MTERF2   MVK   MYL2   MYO1H   NAA25   NUAK1   PHETA1   POLR3B   PPP1CC   PPTC7   PRDM4   PWP1   RAD9B   RFX4   RIC8B   SART3   SELPLG   SH2B3   SSH1   SVOP   TCHP   TCP11L2   TCTN1   TMEM116   TMEM119   TMEM263   TRAFD1   TRPV4   UBE3B   UNG   USP30   USP30-AS1   VPS29   WSCD2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_105234677)_(112194686_?)del
NC_000012.11:g.(?_105628455)_(112632490_?)del
NC_000012.10:g.(?_104152585)_(111116873_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3812105,234,677 - 112,194,686CLINVAR
GRCh3712105,628,455 - 112,632,490CLINVAR
Build 3612104,152,585 - 111,116,873CLINVAR
Cytogenetic Map1212q23.3-24.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617880
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.