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Variant : CV72848 (GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3) Homo sapiens

Symbol: CV72848
Name: GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3
Condition: Hemifacial hyperplasia [RCV000052004]|See cases [RCV000052004]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCDC169   CCDC169-SOHLH2   CCNA1   DCLK1   LINC00445   LINC00457   LINC02343   MAB21L1   NBEA   RFC3   RFXAP   SERTM1   SMAD9   SOHLH2   SPART   SPART-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_33754469)_(36942137_?)dup
NC_000013.10:g.(?_34328606)_(37516274_?)dup
NC_000013.9:g.(?_33226606)_(36414274_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381333,754,469 - 36,942,137CLINVAR
GRCh371334,328,606 - 37,516,274CLINVAR
Build 361333,226,606 - 36,414,274CLINVAR
Cytogenetic Map1313q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619010
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.