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Variant : CV613933 (GRCh37/hg19 7q11.23(chr7:72744494-74339044)) Homo sapiens

Symbol: CV613933
Name: GRCh37/hg19 7q11.23(chr7:72744494-74339044)
Condition: Williams syndrome [RCV000767637]
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   GTF2I   GTF2IRD1   GTF2IRD2   LAT2   LIMK1   METTL27   MIR590   MLXIPL   NCF1   RFC2   STX1A   TBL2   TMEM270   VPS37D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37772,744,494 - 74,339,044CLINVAR
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: 14399602
Created: 2019-05-07
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.