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Variant : CV72046 (GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3) Homo sapiens

Symbol: CV72046
Name: GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051157]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051157]|See cases [RCV000051157]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACTC1   AQR   ARHGAP11A   AVEN   CHRM5   EMC4   EMC7   FMN1   GJD2   GOLGA8A   GOLGA8B   GOLGA8N   GREM1   KATNBL1   LINC02252   LPCAT4   MIR1233-1   MIR1233-2   NANOGP8   NOP10   NUTM1   PGBD4   RYR3   SCG5   SLC12A6   ZNF770  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.9:g.(?_32899499)_(35492630_?)dup
NC_000015.8:g.(?_30686791)_(33279922_?)dup
NC_000015.10:g.(?_32607298)_(35200429_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381532,607,298 - 35,200,429CLINVAR
GRCh371532,899,499 - 35,492,630CLINVAR
Build 361530,686,791 - 33,279,922CLINVAR
Cytogenetic Map1515q13.3-14CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618197
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.