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Variant : CV71876 (GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3) Homo sapiens

Symbol: CV71876
Name: GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3
Condition: Failure to thrive [RCV000050956]|See cases [RCV000050956]
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: ADCY9   C16orf96   CDIP1   CORO7   CORO7-PAM16   CREBBP   DNAJA3   GLIS2   GLIS2-AS1   HMOX2   LINC01569   LINC02861   MGRN1   NMRAL1   PAM16   SRL   TFAP4   TRAP1   UBALD1   VASN  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_3710449)_(4644951_?)dup
NC_000016.9:g.(?_3760450)_(4694952_?)dup
NC_000016.8:g.(?_3700451)_(4634953_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38163,710,449 - 4,644,951CLINVAR
GRCh37163,760,450 - 4,694,952CLINVAR
Build 36163,700,451 - 4,634,953CLINVAR
Cytogenetic Map1616p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618012
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.