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Variant : CV73900 (GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1) Homo sapiens

Symbol: CV73900
Name: GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053133]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053133]|See cases [RCV000053133]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   BAZ1B   BCL7B   BUD23   CLDN3   CLDN4   CLIP2   DNAJC30   EIF4H   ELN   FKBP6   FZD9   GTF2I   GTF2IRD1   LAT2   LIMK1   METTL27   MIR10525   MIR4284   MIR590   MLXIPL   NSUN5   RFC2   STX1A   TBL2   TMEM270   TRIM50   VPS37D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73096542)_(74727989_?)del
NC_000007.13:g.(?_72507129)_(74142327_?)del
NC_000007.12:g.(?_72145065)_(73780263_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38773,096,542 - 74,727,989CLINVAR
GRCh37772,507,129 - 74,142,327CLINVAR
Build 36772,145,065 - 73,780,263CLINVAR
Cytogenetic Map77q11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620078
Created: 2014-05-13
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.