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Variant : CV247836 (GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1) Homo sapiens

Symbol: CV247836
Name: GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1
Condition: See cases [RCV000240485]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ACOXL   ACTR3   ANAPC1   BCL2L11   BUB1   C1QL2   C2orf76   CBWD2   CCDC93   CHCHD5   CKAP2L   CLASP1   CNTNAP5   DBI   DDX18   DPP10   EN1   EPB41L5   FBLN7   FOXD4L1   GLI2   IL1A   IL1B   IL1F10   IL1RN   IL36A   IL36B   IL36G   IL36RN   IL37   INHBB   INSIG2   LIMS3   LIMS4   MALL   MARCO   MERTK   NIFK   NPHP1   NT5DC4   PAX8   POLR1B   PSD4   PTPN4   RABL2A   RALB   RGPD5   RGPD6   RGPD8   RNU4ATAC   SCTR   SEPTIN10   SLC20A1   SLC35F5   SOWAHC   STEAP3   TFCP2L1   TMEM177   TMEM185B   TMEM37   TMEM87B   TSN   TTL   ZC3H6   ZC3H8  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372109,798,247 - 125,658,380CLINVAR
Cytogenetic Map22q12.3-14.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541876
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-06-30
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.