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Variant : CV157035 (GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1) Homo sapiens

Symbol: CV157035
Name: GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1
Condition: See cases [RCV000136502]
Clinical Significance: pathogenic
Last Evaluated: 09/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRE2   ADGRE3   ADGRE5   ADGRL1   AKAP8   ASF1B   BRD4   C19orf53   C19orf57   C19orf67   CASP14   CC2D1A   CCDC105   CCDC130   CLEC17A   DCAF15   DDX39A   DNAJB1   EPHX3   GIPC1   IL27RA   ILVBL   LINC01841   LINC01842   MIR1199   MIR181C   MIR181D   MIR23A   MIR24-2   MIR27A   MIR639   MIR6795   MISP3   MRI1   NANOS3   NDUFB7   NOTCH3   OR1I1   OR7A10   OR7A17   OR7A5   OR7C1   OR7C2   PALM3   PKN1   PODNL1   PRKACA   PTGER1   RFX1   RLN3   SAMD1   SLC1A6   SNORA104   SYDE1   TECR   ZNF333   ZSWIM4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_13533925)_(15371089_?)del
NC_000019.9:g.(?_13644739)_(15481900_?)del
NC_000019.8:g.(?_13505739)_(15342900_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381913,533,925 - 15,371,089CLINVAR
GRCh371913,644,739 - 15,481,900CLINVAR
Build 361913,505,739 - 15,342,900CLINVAR
Cytogenetic Map1919p13.13-13.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484063
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.