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Variant : CV247789 (GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1) Homo sapiens

Symbol: CV247789
Name: GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1
Condition: See cases [RCV000240532]
Clinical Significance: likely pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: CASTOR2   CCL24   CCL26   CLIP2   EIF4H   GTF2I   GTF2IRD1   GTF2IRD2   GTF2IRD2B   HIP1   LAT2   MDH2   MIR590   NCF1   POM121C   POR   RCC1L   RFC2   RHBDD2   SPDYE5   SRRM3   STYXL1   TMEM120A   TRIM73  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37773,591,993 - 75,914,797CLINVAR
Cytogenetic Map77q11.23CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541914
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-01-14
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.