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Variant : CV161301 (GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3) Homo sapiens

Symbol: CV161301
Name: GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3
Condition: See cases [RCV000140255]
Clinical Significance: likely benign
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADCK5   ARHGAP39   C8orf82   CPSF1   CYHR1   FBXL6   FOXH1   GPT   KIFC2   LRRC14   LRRC24   MFSD3   MIR10400   MIR1234   MIR6849   MIR6893   MIR939   PPP1R16A   RECQL4   SLC39A4   SLC52A2   TMEM249   TONSL   TONSL-AS1   VPS28  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_144340449)_(144585787_?)dup
NC_000008.10:g.(?_145564111)_(145811171_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh388144,340,449 - 144,585,787CLINVAR
GRCh378145,564,111 - 145,811,171CLINVAR
Build 368145,534,919 - 145,781,979CLINVAR
Cytogenetic Map88q24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487785
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
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.