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Variant : CV72310 (GRCh38/hg38 13q34(chr13:113084152-114327173)x1) Homo sapiens

Symbol: CV72310
Name: GRCh38/hg38 13q34(chr13:113084152-114327173)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|See cases [RCV000051454]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADPRHL1   ATP4B   CDC16   CHAMP1   CUL4A   DCUN1D2   F10   F10-AS1   F7   GAS6   GAS6-AS1   GAS6-DT   GRK1   GRTP1   GRTP1-AS1   LAMP1   LINC00452   LINC00454   LINC00552   LINC00565   LOC101928841   MCF2L   MIR4502   MIR548AR   MIR8075   PCID2   PROZ   RASA3   TFDP1   TMCO3   TMEM255B   UPF3A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_113084152)_(114327173_?)del
NC_000013.10:g.(?_113738466)_(115085141_?)del
NC_000013.9:g.(?_112786467)_(114110750_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3813113,084,152 - 114,327,173CLINVAR
GRCh3713113,738,466 - 115,085,141CLINVAR
Build 3613112,786,467 - 114,110,750CLINVAR
Cytogenetic Map1313q34CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618470
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.