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Variant : CV382165 (GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1) Homo sapiens

Symbol: CV382165
Name: GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1
Condition: See cases [RCV000449161]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: BEST2   CACNA1A   CALR   DAND5   DHPS   DNASE2   FARSA   FBXW9   GADD45GIP1   GCDH   GET3   HOOK2   IER2   JUNB   KLF1   LYL1   MAN2B1   MAST1   NACC1   NFIX   PRDX2   RAD23A   RNASEH2A   RTBDN   STX10   SYCE2   TNPO2   TRIR   TRMT1   WDR83   WDR83OS   ZNF136   ZNF20   ZNF44   ZNF442   ZNF443   ZNF490   ZNF563   ZNF564   ZNF625   ZNF709   ZNF791   ZNF799  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371912,204,632 - 13,497,073CLINVAR
Cytogenetic Map1919p13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12853858
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-09-10
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.