Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV436113 (GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3) Homo sapiens

Symbol: CV436113
Name: GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3
Condition: See cases [RCV000511857]
Clinical Significance: pathogenic
Last Evaluated: 08/25/2014
Review Status: no assertion criteria provided
Related Genes: ABHD3   ADCYAP1   AFG3L2   AKAIN1   ANKRD12   ANKRD29   ANKRD30B   ANKRD62   APCDD1   AQP4   ARHGAP28   ASXL3   ATP5F1A   B4GALT6   C18orf21   C18orf25   CABLES1   CABYR   CCDC178   CDH2   CELF4   CEP192   CEP76   CETN1   CHMP1B   CHST9   CIDEA   CLUL1   COLEC12   CTAGE1   CTIF   DLGAP1   DLGAP1-AS2   DSC1   DSC2   DSC3   DSG1   DSG2   DSG3   DSG4   DTNA   ELOA2   ELOA3   ELOA3B   ELOA3D   ELP2   EMILIN2   ENOSF1   EPB41L3   EPG5   ESCO1   FAM210A   FHOD3   GALNT1   GAREM1   GATA6   GNAL   GREB1L   HAUS1   HDHD2   HRH4   IER3IP1   IMPA2   IMPACT   INO80C   KATNAL2   KCTD1   KIAA1328   KLHL14   L3MBTL4   LAMA1   LAMA3   LDLRAD4   LOXHD1   LPIN2   LRRC30   MAPRE2   MC2R   MC5R   MEP1B   METTL4   MIB1   MIR1-2   MIR133A1   MIR187   MOCOS   MPPE1   MTCL1   MYL12A   MYL12B   MYOM1   NAPG   NDC80   NDUFV2   NOL4   NPC1   OSBPL1A   PIAS2   PIEZO2   PIK3C3   POTEC   PPP4R1   PRELID3A   PSMA8   PSMG2   PSTPIP2   PTPN2   PTPRM   RAB12   RAB31   RALBP1   RBBP8   RIOK3   RIT2   RMC1   RNF125   RNF138   RNF165   RNMT   ROCK1   RPRD1A   SEH1L   SETBP1   SIGLEC15   SKOR2   SLC14A1   SLC14A2   SLC25A52   SLC35G4   SLC39A6   SMAD2   SMCHD1   SNRPD1   SPIRE1   SS18   ST8SIA5   SYT4   TAF4B   TGIF1   THOC1   TMEM200C   TMEM241   TPGS2   TRAPPC8   TTC39C   TTR   TUBB6   TWSG1   TXNDC2   TYMS   TYMSOS   USP14   VAPA   YES1   ZBTB14   ZBTB7C   ZNF24   ZNF396   ZNF397   ZNF519   ZNF521   ZSCAN30  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3718136,227 - 46,171,053CLINVAR
Cytogenetic Map1818p11.32-q21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13444826
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.