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Variant : CV383750 (GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1) Homo sapiens

Symbol: CV383750
Name: GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1
Condition: See cases [RCV000448358]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AGBL4   AKR1A1   ATPAF1   BEND5   C1orf185   CCDC17   CDKN2C   CMPK1   CYP4A11   CYP4A22   CYP4B1   CYP4X1   CYP4Z1   DMBX1   DMRTA2   EFCAB14   EIF2B3   ELAVL4   EPS15   FAAH   FAF1   FOXD2   FOXE3   GPBP1L1   HECTD3   HPDL   IPP   KNCN   LINC00853   LRRC41   LURAP1   MAST2   MKNK1   MMACHC   MOB3C   MUTYH   NASP   NSUN4   OSBPL9   PDZK1IP1   PIK3R3   POMGNT1   PRDX1   PTCH2   RAD54L   RNF11   SLC5A9   SPATA6   STIL   TAL1   TESK2   TEX38   TMEM69   TOE1   TRABD2B   TSPAN1   TTC39A   UQCRH   UROD   ZSWIM5  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37145,303,358 - 52,157,856CLINVAR
Cytogenetic Map11p34.1-32.3CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12853066
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


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