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Variant : CV590369 (NC_000019.9:g.54039784_54484439dup) Homo sapiens

Symbol: CV590369
Name: NC_000019.9:g.54039784_54484439dup
Condition: Silver Russell Syndrome-related disorder [RCV000785667]
Clinical Significance: uncertain significance
Last Evaluated: 12/06/2018
Review Status: criteria provided, single submitter
Related Genes: CACNG7   CACNG8   DPRX   MIR1283-1   MIR1283-2   MIR1323   MIR371A   MIR371B   MIR372   MIR373   MIR498   MIR512-1   MIR512-2   MIR515-1   MIR515-2   MIR516A1   MIR516A2   MIR516B1   MIR516B2   MIR517A   MIR517B   MIR517C   MIR518A1   MIR518A2   MIR518B   MIR518C   MIR518D   MIR518E   MIR518F   MIR519A1   MIR519A2   MIR519B   MIR519C   MIR519D   MIR519E   MIR520A   MIR520B   MIR520C   MIR520D   MIR520E   MIR520F   MIR520G   MIR520H   MIR521-1   MIR521-2   MIR522   MIR523   MIR524   MIR525   MIR526A1   MIR526A2   MIR526B   MIR527   MYADM   MYADM-AS1   NLRP12   PRKCG   ZNF331  
Variant Type: duplication (SO:1000035)
Evidence: research
HGVS Name(s): NC_000019.9:g.54039784_54484439dup
Human AssemblyChrPosition (strand)Source
GRCh381953,536,530 - 53,981,185CLINVAR
GRCh371954,039,784 - 54,484,439CLINVAR
Cytogenetic Map1919q13.42CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14696122
Created: 2019-07-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.