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Variant : CV613973 (GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)) Homo sapiens

Symbol: CV613973
Name: GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)
Condition: Tetralogy of Fallot [RCV000767677]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: AGPAT5   ANGPT2   ARHGEF10   CLN8   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB4A   DEFB4B   DLGAP2   ERICH1   FBXO25   KBTBD11   MCPH1   MYOM2   SPAG11A   SPAG11B   TDRP   USP17L1   USP17L4   XKR5   ZNF596   ZNF705B   ZNF705G  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh378194,617 - 7,787,444CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR
Trait Synonyms: Fallot tetralogy; Tetrology of fallot



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399414
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-05-19
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.