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Variant : CV159289 (GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1) Homo sapiens

Symbol: CV159289
Name: GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1
Condition: See cases [RCV000138537]
Clinical Significance: uncertain significance
Last Evaluated: 08/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ASCL4   BTBD11   CASC18   CKAP4   CMKLR1   CORO1C   CRY1   DAO   FICD   ISCU   LINC01498   MIR4496   MIR619   MTERF2   NUAK1   POLR3B   PRDM4   PWP1   RFX4   RIC8B   SART3   SELPLG   SSH1   SVOP   TCP11L2   TMEM119   TMEM263   WSCD2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_105644967)_(108994840_?)del
NC_000012.11:g.(?_106038745)_(109432645_?)del
NC_000012.10:g.(?_104562875)_(107917026_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3812105,644,967 - 108,994,840CLINVAR
GRCh3712106,038,745 - 109,432,645CLINVAR
Build 3612104,562,875 - 107,917,026CLINVAR
Cytogenetic Map1212q23.3-24.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486077
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-26
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.