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Variant : CV72434 (GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1) Homo sapiens

Symbol: CV72434
Name: GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051579]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051579]|See cases [RCV000051579]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AMN   ANKRD9   ASPG   ATP5MPL   BAG5   CDC42BPB   CINP   CKB   COA8   EIF5   EXOC3L4   KIF26A   KLC1   LBHD2   LINC00605   LINC00637   LINC00677   LINC02323   LINC02691   MARK3   MIR203A   MIR203B   MIR4309   MOK   PPP1R13B   RCOR1   RD3L   SNORA28   TDRD9   TECPR2   TNFAIP2   TRAF3   TRI-AAT5-4   TRMT61A   WDR20   XRCC3   ZFYVE21   ZNF839  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_102210395)_(104449321_?)del
NC_000014.8:g.(?_102676732)_(104926965_?)del
NC_000014.7:g.(?_101746485)_(103998010_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3814102,210,395 - 104,449,321CLINVAR
GRCh3714102,676,732 - 104,926,965CLINVAR
Build 3614101,746,485 - 103,998,010CLINVAR
Cytogenetic Map1414q32.31-32.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618594
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.