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Variant : CV247997 (GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3) Homo sapiens

Symbol: CV247997
Name: GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3
Condition: See cases [RCV000240364]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ACE   APPBP2   BCAS3   BRIP1   C17orf64   CA4   CCDC47   CD79B   CLTC   CSH1   CSH2   CSHL1   CYB561   DCAF7   DDX42   DHX40   EFCAB3   FTSJ3   GDPD1   GH1   GH2   HEATR6   HSF5   ICAM2   INTS2   KCNH6   LIMD2   LINC02875   LPO   MAP3K3   MARCHF10   MED13   METTL2A   MIR21   MPO   MRC2   MTMR4   NACA2   PPM1D   PPM1E   PRR11   PRR29   PSMC5   PTRH2   RAD51C   RNF43   RNFT1   RPS6KB1   SCN4A   SEPTIN4   SKA2   SMARCD2   SMG8   STRADA   SUPT4H1   TACO1   TANC2   TBX2   TBX4   TEX14   TLK2   TRIM37   TSPOAP1   TUBD1   USP32   VMP1   YPEL2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371756,321,134 - 62,080,001CLINVAR
Cytogenetic Map1717q22-23.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541772
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-02-11
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.