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Variant : CV74697 (GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1) Homo sapiens

Symbol: CV74697
Name: GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1
Condition: See cases [RCV000053975]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC010247.1   ATP1A3   CEACAM1   CEACAM8   CIC   CNFN   CXCL17   DEDD2   ERF   GRIK5   GSK3A   LIPE   LIPE-AS1   LIPE-AS1   LOC111501767   LOC111811970   MEGF8   MIR4323   MIR8077   PAFAH1B3   POU2F2   PRR19   PSG1   PSG11   PSG2   PSG3   PSG6   PSG7   PSG8   PSG8-AS1   RABAC1   TMEM145   ZNF526   ZNF574  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_41930894)_(43141456_?)del
NC_000019.9:g.(?_42514712)_(43645608_?)del
NC_000019.8:g.(?_47126886)_(48337448_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381941,930,894 - 43,141,456CLINVAR
GRCh371942,514,712 - 43,645,608CLINVAR
Build 361947,126,886 - 48,337,448CLINVAR
Cytogenetic Map1919q13.2-13.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620889
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
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.