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Variant : CV435429 (GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3) Homo sapiens

Symbol: CV435429
Name: GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3
Condition: See cases [RCV000512118]
Clinical Significance: pathogenic
Last Evaluated: 12/14/2014
Review Status: no assertion criteria provided
Related Genes: ABHD3   ADCYAP1   AFG3L2   AKAIN1   ANKRD12   ANKRD29   ANKRD30B   ANKRD62   APCDD1   ARHGAP28   CABLES1   CEP192   CEP76   CETN1   CHMP1B   CIDEA   CLUL1   COLEC12   CTAGE1   DLGAP1   DLGAP1-AS2   EMILIN2   ENOSF1   EPB41L3   ESCO1   FAM210A   GATA6   GNAL   GREB1L   IMPA2   L3MBTL4   LAMA1   LAMA3   LDLRAD4   LPIN2   LRRC30   MC2R   MC5R   METTL4   MIB1   MIR1-2   MIR133A1   MPPE1   MTCL1   MYL12A   MYL12B   MYOM1   NAPG   NDC80   NDUFV2   NPC1   PIEZO2   POTEC   PPP4R1   PRELID3A   PSMG2   PTPN2   PTPRM   RAB12   RAB31   RALBP1   RBBP8   RIOK3   RMC1   RNMT   ROCK1   SEH1L   SLC35G4   SMCHD1   SNRPD1   SPIRE1   TGIF1   THOC1   TMEM200C   TMEM241   TTC39C   TUBB6   TWSG1   TXNDC2   TYMS   TYMSOS   USP14   VAPA   YES1   ZBTB14   ZNF519  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3718136,226 - 21,657,790CLINVAR
Cytogenetic Map1818p11.32-q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13445086
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-05-26
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.