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Variant : CV73215 (GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3) Homo sapiens

Symbol: CV73215
Name: GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052395]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052395]|See cases [RCV000052395]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADCY9   BICDL2   C16orf90   CLDN6   CLDN9   CLUAP1   CREBBP   DNASE1   ELOB   FLYWCH1   FLYWCH2   HCFC1R1   IL32   KREMEN2   LINC00514   LINC00921   LINC02861   MEFV   MIR6126   MMP25   MMP25-AS1   MTRNR2L4   NAA60   NLRC3   OR1F1   OR2C1   PAQR4   PKMYT1   PRSS21   PRSS22   PRSS27   PRSS33   PRSS41   SLX4   SNORA3C   SRRM2   SRRM2-AS1   THOC6   TIGD7   TNFRSF12A   TRAP1   TRK-CTT2-5   TRK-CTT3-1   TRK-CTT4-1   TRK-CTT5-1   TRP-AGG1-1   TRP-AGG2-7   TRP-AGG2-8   TRP-CGG1-2   TRP-TGG3-3   TRP-TGG3-4   TRP-TGG3-5   TRR-CCG1-3   TRR-CCT3-1   TRR-CCT5-1   ZG16B   ZNF174   ZNF200   ZNF205   ZNF205-AS1   ZNF213   ZNF213-AS1   ZNF263   ZNF597   ZNF75A   ZSCAN10   ZSCAN32  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_2717952)_(4041020_?)dup
NC_000016.9:g.(?_2767953)_(4091021_?)dup
NC_000016.8:g.(?_2707954)_(4031022_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38162,717,952 - 4,041,020CLINVAR
GRCh37162,767,953 - 4,091,021CLINVAR
Build 36162,707,954 - 4,031,022CLINVAR
Cytogenetic Map1616p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619383
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.