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Variant : CV72445 (GRCh38/hg38 1q44(chr1:246031245-247245758)x3) Homo sapiens

Symbol: CV72445
Name: GRCh38/hg38 1q44(chr1:246031245-247245758)x3
Condition: See cases [RCV000051590]
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: AHCTF1   C1orf229   CNST   LINC01341   LINC01743   MIR3916   SCCPDH   SMYD3   SMYD3-AS1   TFB2M   ZNF124   ZNF669   ZNF670   ZNF670-ZNF695   ZNF695  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_246031245)_(247245758_?)dup
NC_000001.10:g.(?_246194547)_(247409060_?)dup
NC_000001.9:g.(?_244261170)_(245475683_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381246,031,245 - 247,245,758CLINVAR
GRCh371246,194,547 - 247,409,060CLINVAR
Build 361244,261,170 - 245,475,683CLINVAR
Cytogenetic Map11q44CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618605
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-08
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.