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Variant : CV74544 (GRCh38/hg38 16p13.3(chr16:2786223-2913719)x3) Homo sapiens

Symbol: CV74544
Name: GRCh38/hg38 16p13.3(chr16:2786223-2913719)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053820]|See cases [RCV000053820]
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: FLYWCH1   FLYWCH2   PRSS21   PRSS22   PRSS33   PRSS41   SNORA3C   ZG16B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_2786223)_(2913719_?)dup
NC_000016.9:g.(?_2836224)_(2963720_?)dup
NC_000016.8:g.(?_2776225)_(2903721_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38162,786,223 - 2,913,719CLINVAR
GRCh37162,836,224 - 2,963,720CLINVAR
Build 36162,776,225 - 2,903,721CLINVAR
Cytogenetic Map1616p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620735
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.