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Variant : CV613855 (GRCh37/hg19 7q11.23(chr7:72721449-73959106)) Homo sapiens

Symbol: CV613855
Name: GRCh37/hg19 7q11.23(chr7:72721449-73959106)
Condition: Williams syndrome [RCV000767559]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ABHD11   ABHD11-AS1   BAZ1B   BCL7B   BUD23   CLDN3   CLDN4   CLIP2   DNAJC30   EIF4H   ELN   FKBP6   FZD9   GTF2IRD1   LAT2   LIMK1   METTL27   MIR590   MLXIPL   NSUN5   RFC2   STX1A   TBL2   TMEM270   TRIM50   VPS37D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37772,721,449 - 73,959,106CLINVAR
Cytogenetic Map77q11.23CLINVAR
Trait Synonyms: CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399526
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-01-07
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.