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Variant : CV72198 (GRCh38/hg38 15q13.2-13.3(chr15:30361474-32607498)x3) Homo sapiens

Symbol: CV72198
Name: GRCh38/hg38 15q13.2-13.3(chr15:30361474-32607498)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051335]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051335]|See cases [RCV000051335]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARHGAP11B   CHRFAM7A   CHRNA7   DNM1P50   FAN1   GOLGA8H   GOLGA8K   GOLGA8N   GOLGA8O   GOLGA8Q   GOLGA8R   KLF13   LINC02256   LINC02352   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_30361474)_(32607498_?)dup
NC_000015.9:g.(?_30653677)_(32899699_?)dup
NC_000015.8:g.(?_28440969)_(30686991_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381530,361,474 - 32,607,498CLINVAR
GRCh371530,653,677 - 32,899,699CLINVAR
Build 361528,440,969 - 30,686,991CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8618357
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.