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Variant : CV73791 (GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3) Homo sapiens

Symbol: CV73791
Name: GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3
Condition: See cases [RCV000053000]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD12   ACSS1   AL035252.3   AL133464.1   APMAP   CD93   CST1   CST11   CST2   CST3   CST4   CST5   CST7   CST8   CST9   CST9L   CSTL1   ENTPD6   FAM182A   FAM182B   FAM242B   FOXA2   GGTLC1   GINS1   GZF1   LINC00261   LINC00656   LINC01427   LINC01431   LINC01432   LINC01597   LINC01721   LINC01733   LINC01747   LNCNEF   MIR663A   MIR663AHG   NANP   NAPB   NINL   NXT1   PYGB   SSTR4   SYNDIG1   THBD   VSX1   ZNF337   ZNF337-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.10:g.(?_22042224)_(29520488_?)dup
NC_000020.9:g.(?_21990224)_(28134149_?)dup
NC_000020.11:g.(?_22061586)_(30285812_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382022,061,586 - 30,285,812CLINVAR
GRCh372022,042,224 - 29,520,488CLINVAR
Build 362021,990,224 - 28,134,149CLINVAR
Cytogenetic Map2020p11.22-q11.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619965
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-23
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.