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Variant : CV154516 (GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1) Homo sapiens

Symbol: CV154516
Name: GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1
Condition: See cases [RCV000134176]
Clinical Significance: pathogenic
Last Evaluated: 10/10/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRE2   ADGRE3   ADGRE5   ADGRL1   AKAP8   AKAP8L   AP1M1   BRD4   C19orf44   CALR3   CASP14   CCDC105   CHERP   CIB3   CLEC17A   CLEC4O   CPAMD8   CYP4F11   CYP4F12   CYP4F2   CYP4F22   CYP4F3   CYP4F8   DDX39A   DNAJB1   EPHX3   EPS15L1   F2RL3   FAM32A   GIPC1   HSH2D   ILVBL   KLF2   LINC00661   LINC00905   LINC01764   LINC01841   LINC01842   LINC01855   MED26   MIR1470   MIR639   MIR6795   NDUFB7   NOTCH3   NWD1   OR10H1   OR10H2   OR10H3   OR10H4   OR10H5   OR1I1   OR7A10   OR7A17   OR7A5   OR7C1   OR7C2   PGLYRP2   PKN1   PTGER1   RAB8A   RASAL3   SIN3B   SLC1A6   SLC35E1   SMIM7   SNORA104   SYDE1   TECR   TMEM38A   TPM4   UCA1   WIZ   ZNF333  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_14154962)_(16914313_?)del
NC_000019.9:g.(?_14265774)_(17025123_?)del
NC_000019.8:g.(?_14126774)_(16886123_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381914,154,962 - 16,914,313CLINVAR
GRCh371914,265,774 - 17,025,123CLINVAR
Build 361914,126,774 - 16,886,123CLINVAR
Cytogenetic Map1919p13.12-13.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481756
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
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.