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Variant : CV163001 (GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1) Homo sapiens

Symbol: CV163001
Name: GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1
Condition: See cases [RCV000141708]
Clinical Significance: likely pathogenic
Last Evaluated: 03/24/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AP1M2   ATG4D   C19orf38   CARM1   CDC37   CDKN2D   DNM2   ICAM3   ILF3   ILF3-DT   KEAP1   KRI1   MIR1181   MIR1238   MIR199A1   MIR4748   MIR638   MIR6793   PDE4A   QTRT1   RAVER1   S1PR5   SLC44A2   TMED1   TYK2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_10330655)_(10920552_?)del
NC_000019.9:g.(?_10441331)_(11031228_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381910,330,655 - 10,920,552CLINVAR
GRCh371910,441,331 - 11,031,228CLINVAR
Build 361910,302,331 - 10,892,228CLINVAR
Cytogenetic Map1919p13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9489232
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.