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Variant : CV554590 (GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1) Homo sapiens

Symbol: CV554590
Name: GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1
Condition: not provided [RCV000682895]
Clinical Significance: pathogenic
Last Evaluated: 05/15/2018
Review Status: no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   BAZ1B   BCL7B   BUD23   CLDN3   CLDN4   CLIP2   DNAJC30   EIF4H   ELN   FKBP6   FZD9   GTF2I   GTF2IRD1   GTF2IRD2   GTF2IRD2B   LAT2   LIMK1   METTL27   MIR590   MLXIPL   NCF1   NSUN5   RCC1L   RFC2   STX1A   TBL2   TMEM270   TRIM50   VPS37D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37772,612,042 - 74,574,641CLINVAR
Cytogenetic Map77q11.23CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13795796
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.