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Variant : CV71638 (GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3) Homo sapiens

Symbol: CV71638
Name: GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050636]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050636]|See cases [RCV000050636]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACP7   ACTN4   AKT2   ARHGEF1   ATP1A3   AXL   B3GNT8   B9D2   BCKDHA   BLVRB   C19orf33   C19orf47   C19orf54   CAPN12   CATSPERG   CCDC97   CCER2   CD79A   CEACAM1   CEACAM21   CEACAM3   CEACAM4   CEACAM5   CEACAM6   CEACAM7   CEACAM8   CIC   CLC   CNFN   CNTD2   COQ8B   CXCL17   CYP2A13   CYP2A6   CYP2A7   CYP2B6   CYP2F1   CYP2S1   DEDD2   DLL3   DMAC2   DMRTC2   DPF1   DYRK1B   ECH1   EGLN2   EID2   EID2B   EIF3K   ERF   ERFL   ERICH4   EXOSC5   FAM98C   FBL   FBXO17   FBXO27   FCGBP   GGN   GMFG   GRIK5   GSK3A   HIPK4   HNRNPL   HNRNPUL1   IFNL1   IFNL2   IFNL3   IFNL4   ITPKC   KCNK6   LEUTX   LGALS13   LGALS14   LGALS16   LGALS4   LGALS7   LGALS7B   LINC01480   LIPE   LIPE-AS1   LRFN1   LTBP4   LYPD4   MAP3K10   MAP4K1   MED29   MEGF8   MIA   MIA-RAB4B   MIR4323   MIR4530   MIR641   MIR6719   MIR6796   MIR6797   MIR8077   MRPS12   NCCRP1   NFKBIB   NUMBL   PAF1   PAFAH1B3   PAK4   PCAT19   PLD3   PLEKHG2   POU2F2   PPP1R14A   PRR19   PRX   PSG3   PSMC4   PSMD8   RAB4B   RAB4B-EGLN2   RABAC1   RASGRP4   RINL   RPS16   RPS19   RYR1   SAMD4B   SARS2   SELENOV   SERTAD1   SERTAD3   SHKBP1   SIPA1L3   SIRT2   SNORD152   SNORD175   SNRPA   SPINT2   SPRED3   SPTBN4   SUPT5H   SYCN   TGFB1   TIMM50   TMEM145   TMEM91   TRI-TAT1-1   TTC9B   WDR87   YIF1B   ZFP30   ZFP36   ZNF526   ZNF527   ZNF540   ZNF546   ZNF569   ZNF570   ZNF571   ZNF571-AS1   ZNF573   ZNF574   ZNF607   ZNF780A   ZNF780B   ZNF781   ZNF793   ZNF793-AS1   ZNF875  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_37319377)_(42738688_?)dup
NC_000019.9:g.(?_37810279)_(43242840_?)dup
NC_000019.8:g.(?_42502119)_(47934680_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381937,319,377 - 42,738,688CLINVAR
GRCh371937,810,279 - 43,242,840CLINVAR
Build 361942,502,119 - 47,934,680CLINVAR
Cytogenetic Map1919q13.12-13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617739
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.