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Variant : CV605224 (GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3) Homo sapiens

Symbol: CV605224
Name: GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3
Condition: not provided [RCV000750524]
Clinical Significance: pathogenic
Last Evaluated: 04/09/2013
Review Status: no assertion criteria provided
Related Genes: ACTR6   AMDHD1   ANKS1B   ANO4   APAF1   ARL1   ASCL1   CCDC38   CDK17   CFAP54   CHPT1   DEPDC4   DRAM1   ELK3   FAM71C   FGD6   GAS2L3   GNPTAB   HAL   IGF1   IKBIP   LTA4H   METAP2   MIR492   MYBPC1   NDUFA12   NEDD1   NR1H4   NR2C1   NTN4   NUP37   PAH   PARPBP   PMCH   RMST   SCYL2   SLC17A8   SLC25A3   SLC5A8   SNRPF   SPIC   SYCP3   TMCC3   TMPO   UHRF1BP1L   USP44   UTP20   VEZT   WASHC3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371294,881,995 - 103,635,998CLINVAR
Cytogenetic Map1212q22-23.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14365850
Created: 2019-02-12
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.