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Variant : CV382282 (GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1) Homo sapiens

Symbol: CV382282
Name: GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1
Condition: See cases [RCV000448968]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADAL   AP4E1   ATP8B4   B2M   BCL2L10   BLOC1S6   C15orf48   CAPN3   CASC4   CATSPER2   CCNDBP1   CDAN1   CEP152   CKMT1A   CKMT1B   COPS2   CTDSPL2   CTXN2   CYP19A1   DMXL2   DTWD1   DUOX1   DUOX2   DUOXA1   DUOXA2   DUT   EHD4   EID1   EIF3J   ELL3   EPB42   FAM227B   FBN1   FGF7   FRMD5   GABPB1   GALK2   GANC   GATM   GLDN   GNB5   HAUS2   HDC   HYPK   ITPKA   JMJD7   LCMT2   LEO1   LRRC57   LTK   LYSMD2   MAP1A   MAPK6   MAPKBP1   MFAP1   MGA   MYEF2   NDUFAF1   PATL2   PDIA3   PLA2G4B   PLA2G4D   PLA2G4E   PLA2G4F   PPIP5K1   RPAP1   RTF1   SCG3   SECISBP2L   SEMA6D   SERF2   SERINC4   SHC4   SHF   SLC12A1   SLC24A5   SLC27A2   SLC28A2   SLC30A4   SNAP23   SORD   SPATA5L1   SPG11   SPPL2A   SPTBN5   SQOR   STARD9   STRC   TERB2   TGM5   TGM7   TMEM62   TMEM87A   TMOD2   TMOD3   TNFAIP8L3   TP53BP1   TRIM69   TRPM7   TTBK2   TUBGCP4   TYRO3   UBR1   USP50   USP8   VPS39   WDR76   ZNF106   ZSCAN29  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371541,689,327 - 52,446,981CLINVAR
Cytogenetic Map1515q15.1-21.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853668
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-07
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.