Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV165012 (GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1) Homo sapiens

Symbol: CV165012
Name: GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1
Condition: See cases [RCV000143325]
Clinical Significance: pathogenic
Last Evaluated: 01/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARL8B   ARPC4   ARPC4-TTLL3   BHLHE40   BHLHE40-AS1   BRK1   BRPF1   CAMK1   CAV3   CHL1   CHL1-AS1   CHL1-AS2   CIDEC   CNTN4   CNTN4-AS1   CNTN4-AS2   CNTN6   CPNE9   CRBN   CRELD1   EDEM1   EGOT   EMC3   EMC3-AS1   FANCD2   FANCD2OS   GHRL   GHRLOS   GRM7   GRM7-AS1   GRM7-AS2   GRM7-AS3   IL17RC   IL17RE   IL5RA   IRAK2   ITPR1   ITPR1-DT   JAGN1   LHFPL4   LINC00312   LINC00852   LINC01266   LMCD1   LMCD1-AS1   LRRN1   MIR12127   MIR4790   MTMR14   OGG1   OXTR   PRRT3   PRRT3-AS1   RAD18   RPUSD3   SEC13   SETD5   SETMAR   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   SUMF1   TADA3   TATDN2   THUMPD3   THUMPD3-AS1   TRNT1   TTLL3   VHL  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_32241)_(10323124_?)del
NC_000003.11:g.(?_73914)_(10364808_?)del
NC_000003.10:g.(?_48914)_(10339808_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38332,241 - 10,323,124CLINVAR
GRCh37373,914 - 10,364,808CLINVAR
Build 36348,914 - 10,339,808CLINVAR
Cytogenetic Map33p26.3-25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490923
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.