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Variant : CV72199 (GRCh38/hg38 15q13.2-13.3(chr15:30361674-32343758)x3) Homo sapiens

Symbol: CV72199
Name: GRCh38/hg38 15q13.2-13.3(chr15:30361674-32343758)x3
Condition: Renal adysplasia [RCV000051336]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051337]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051337]|See cases [RCV000051336]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARHGAP11B   CHRFAM7A   CHRNA7   FAN1   GOLGA8H   GOLGA8Q   GOLGA8R   KLF13   LINC02352   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_30361674)_(32343758_?)dup
NC_000015.9:g.(?_30653877)_(32635959_?)dup
NC_000015.8:g.(?_28441169)_(30423251_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381530,361,674 - 32,343,758CLINVAR
GRCh371530,653,877 - 32,635,959CLINVAR
Build 361528,441,169 - 30,423,251CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR
Age Of Onset: neonatal/infancy



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618358
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-08-06
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.