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Variant : CV164564 (GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4) Homo sapiens

Symbol: CV164564
Name: GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4
Condition: See cases [RCV000142877]
Clinical Significance: uncertain significance
Last Evaluated: 09/27/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADPRH   ARHGAP31   ARHGAP31-AS1   B4GALT4   B4GALT4-AS1   CD80   COX17   FSTL1   GPR156   GSK3B   GTF2E1   HGD   IGSF11   IGSF11-AS1   LINC02049   LRRC58   MAATS1   MIR198   MIR6529   NDUFB4   NR1I2   PLA1A   POGLUT1   POPDC2   RABL3   TEX55   TIMMDC1   TMEM39A   UPK1B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_117844958)_(120826621_?)dup
NC_000003.11:g.(?_117563805)_(120545468_?)dup
NC_000003.10:g.(?_119046495)_(122028158_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383117,844,958 - 120,826,621CLINVAR
GRCh373117,563,805 - 120,545,468CLINVAR
Build 363119,046,495 - 122,028,158CLINVAR
Cytogenetic Map33q13.32-13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490475
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.