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Variant : CV73708 (GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3) Homo sapiens

Symbol: CV73708
Name: GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052911]|See cases [RCV000052911]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CACNA1A   CALR   DAND5   DNASE2   FARSA   FARSA-AS1   GADD45GIP1   GCDH   IER2   KLF1   LYL1   MAST1   MIR5695   MIR6515   MIR6794   NACC1   NFIX   RAD23A   STX10   SYCE2   TRMT1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_12850595)_(13290954_?)dup
NC_000019.9:g.(?_12961409)_(13401768_?)dup
NC_000019.8:g.(?_12822409)_(13262768_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,850,595 - 13,290,954CLINVAR
GRCh371912,961,409 - 13,401,768CLINVAR
Build 361912,822,409 - 13,262,768CLINVAR
Cytogenetic Map1919p13.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619881
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.