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Variant : CV380890 (GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3) Homo sapiens

Symbol: CV380890
Name: GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3
Condition: See cases [RCV000447654]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACTN2   ADSS2   AHCTF1   AKT3   AL391832.2   ARID4B   B3GALNT2   C1orf100   C1orf229   CATSPERE   CEP170   CHML   CHRM3   CNST   COA6   COX20   DESI2   DISC1   DISC2   EDARADD   EFCAB2   ERO1B   EXO1   FH   FMN2   GCSAML   GGPS1   GNG4   GPR137B   GREM2   HEATR1   HNRNPU   IRF2BP2   KCNK1   KIF26B   KMO   LGALS8   LYPD8   LYST   MAP10   MAP1LC3C   MAP3K21   MT1HL1   MTR   NID1   NLRP3   NTPCR   OPN3   OR11L1   OR13G1   OR14A16   OR14C36   OR14I1   OR1C1   OR2AK2   OR2B11   OR2C3   OR2G2   OR2G3   OR2G6   OR2L13   OR2L2   OR2L3   OR2L5   OR2L8   OR2M2   OR2M3   OR2M4   OR2M5   OR2M7   OR2T1   OR2T10   OR2T11   OR2T12   OR2T2   OR2T27   OR2T29   OR2T3   OR2T33   OR2T34   OR2T35   OR2T4   OR2T5   OR2T6   OR2T8   OR2W3   OR2W5   OR6F1   PCNX2   PGBD2   PLD5   RBM34   RGS7   RYR2   SCCPDH   SDCCAG8   SH3BP5L   SIPA1L2   SLC35F3   SMYD3   TARBP1   TBCE   TFB2M   TOMM20   TRIM58   TSNAX   VN1R5   WDR64   ZBTB18   ZNF124   ZNF496   ZNF669   ZNF670   ZNF672   ZNF692   ZNF695   ZP4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371231,670,870 - 249,213,000CLINVAR
Cytogenetic Map11q42.2-44CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852368
Created: 2017-04-11
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.