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Variant : CV158438 (GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1) Homo sapiens

Symbol: CV158438
Name: GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1
Condition: See cases [RCV000137755]
Clinical Significance: pathogenic
Last Evaluated: 09/12/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ATP2B2   BRK1   CIDEC   CRELD1   EMC3   EMC3-AS1   FANCD2   FANCD2OS   GHRL   GHRLOS   IL17RC   IL17RE   IRAK2   JAGN1   LINC00852   MIR12127   MIR378B   MIR885   PRRT3   PRRT3-AS1   SEC13   TATDN2   VHL  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_9875909)_(10572677_?)del
NC_000003.11:g.(?_9917593)_(10614361_?)del
NC_000003.10:g.(?_9892593)_(10589361_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3839,875,909 - 10,572,677CLINVAR
GRCh3739,917,593 - 10,614,361CLINVAR
Build 3639,892,593 - 10,589,361CLINVAR
Cytogenetic Map33p25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485307
Created: 2014-09-09
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.