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Variant : CV436492 (GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1) Homo sapiens

Symbol: CV436492
Name: GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1
Condition: See cases [RCV000510621]
Clinical Significance: pathogenic
Last Evaluated: 10/21/2014
Review Status: no assertion criteria provided
Related Genes: ABHD12   ACSS1   APMAP   CD93   CFAP61   CRNKL1   CST1   CST11   CST2   CST3   CST4   CST5   CST7   CST8   CST9   CST9L   CSTL1   DTD1   ENTPD6   FOXA2   GGTLC1   GINS1   GZF1   INSM1   KIZ   NAA20   NANP   NAPB   NINL   NKX2-2   NKX2-4   NXT1   PAX1   PYGB   RALGAPA2   RIN2   SCP2D1   SCP2D1-AS1   SEC23B   SLC24A3   SSTR4   SYNDIG1   THBD   VSX1   XRN2   ZNF337  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372018,500,917 - 25,847,320CLINVAR
Cytogenetic Map2020p11.23-11.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13443600
Created: 2017-11-07
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.