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Variant : CV73029 (GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3) Homo sapiens

Symbol: CV73029
Name: GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3
Condition: See cases [RCV000052188]
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: ADCK5   ARHGAP39   C8orf82   CPSF1   CYHR1   FOXH1   GPT   KIFC2   LRRC14   LRRC24   MFSD3   MIR10400   MIR1234   MIR6849   MIR6893   MIR939   PPP1R16A   RECQL4   SLC39A4   TONSL   TONSL-AS1   VPS28  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_144375621)_(144605333_?)dup
NC_000008.10:g.(?_145599310)_(145830717_?)dup
NC_000008.9:g.(?_145570118)_(145801525_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh388144,375,621 - 144,605,333CLINVAR
GRCh378145,599,310 - 145,830,717CLINVAR
Build 368145,570,118 - 145,801,525CLINVAR
Cytogenetic Map88q24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619192
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-05-19
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.