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

Variant : CV381943 (GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3) Homo sapiens

Symbol: CV381943
Name: GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3
Condition: See cases [RCV000447320]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABHD3   AFG3L2   ANKRD29   ANKRD30B   CABLES1   CABYR   CEP192   CEP76   CIDEA   CTAGE1   ESCO1   FAM210A   GATA6   GREB1L   HRH4   IMPACT   LAMA3   LDLRAD4   MC2R   MC5R   MIB1   MIR1-2   MIR133A1   NPC1   OSBPL1A   POTEC   PRELID3A   PSMG2   PTPN2   RBBP8   RIOK3   RMC1   RNMT   ROCK1   SEH1L   SNRPD1   SPIRE1   TMEM241   TTC39C   TUBB6   ZNF519   ZNF521  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371812,254,327 - 23,262,749CLINVAR
Cytogenetic Map1818p11.21-q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852037
Created: 2017-04-11
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.