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Variant : CV72466 (GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1) Homo sapiens

Symbol: CV72466
Name: GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051611]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051611]|See cases [RCV000051611]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BCL6   CLDN1   CLDN16   FLJ42393   IL1RAP   LINC01991   LINC02013   LINC02041   LPP   LPP-AS1   LPP-AS2   MIR28   MIR944   P3H2   P3H2-AS1   RTP2   SST   TMEM207   TP63   TPRG1   TPRG1-AS1   TPRG1-AS2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_187446231)_(190839052_?)del
NC_000003.11:g.(?_187164019)_(190556841_?)del
NC_000003.10:g.(?_188646713)_(192039535_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383187,446,231 - 190,839,052CLINVAR
GRCh373187,164,019 - 190,556,841CLINVAR
Build 363188,646,713 - 192,039,535CLINVAR
Cytogenetic Map33q27.3-28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618626
Created: 2014-05-13
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.