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Variant : CV72937 (GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1) Homo sapiens

Symbol: CV72937
Name: GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1
Condition: See cases [RCV000052095]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: EML2   EML2-AS1   GIPR   GPR4   MIR330   MIR642A   MIR642B   OPA3   PPM1N   QPCTL   RTN2   SNRPD2   VASP  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_45481858)_(45710518_?)del
NC_000019.9:g.(?_45985116)_(46213776_?)del
NC_000019.8:g.(?_50676956)_(50905616_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381945,481,858 - 45,710,518CLINVAR
GRCh371945,985,116 - 46,213,776CLINVAR
Build 361950,676,956 - 50,905,616CLINVAR
Cytogenetic Map1919q13.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619099
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.