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Variant : CV72462 (GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1) Homo sapiens

Symbol: CV72462
Name: GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1
Condition: Failure to thrive [RCV000051607]|See cases [RCV000051607]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC5   ABCC5-AS1   ABCF3   ADIPOQ   ADIPOQ-AS1   AHSG   ALG3   AP2M1   ATP11B   B3GNT5   BCL6   C3orf70   CAMK2N2   CHRD   CLCN2   CRYGS   DCUN1D1   DGKG   DNAJB11   DVL3   ECE2   EEF1AKMT4   EEF1AKMT4-ECE2   EHHADH   EHHADH-AS1   EIF2B5   EIF4A2   EIF4G1   EPHB3   ETV5   FAM131A   FETUB   FLJ42393   HRG   HTR3C   HTR3D   HTR3E   HTR3E-AS1   IGF2BP2   IGF2BP2-AS1   KLHL24   KLHL6   KLHL6-AS1   KNG1   LAMP3   LINC00888   LINC01839   LINC01840   LINC01991   LINC02020   LINC02041   LINC02043   LINC02052   LINC02054   LINC02069   LIPH   LPP   LPP-AS2   MAGEF1   MAP3K13   MAP6D1   MASP1   MCCC1   MCF2L2   MIR1224   MIR1248   MIR4448   MIR548AQ   MIR5588   PARL   POLR2H   PSMD2   RFC4   RPL39L   RTP1   RTP2   RTP4   SENP2   SNORA4   SNORA63   SNORA63B   SNORA63D   SNORA63E   SNORA81   SNORD2   SNORD66   SST   ST6GAL1   TBCCD1   THPO   TMEM41A   TRA2B   VPS8   VWA5B2   YEATS2   YEATS2-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_182678453)_(188418928_?)del
NC_000003.11:g.(?_182396241)_(188136716_?)del
NC_000003.10:g.(?_183878935)_(189619410_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383182,678,453 - 188,418,928CLINVAR
GRCh373182,396,241 - 188,136,716CLINVAR
Build 363183,878,935 - 189,619,410CLINVAR
Cytogenetic Map33q26.33-28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618622
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.