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Variant : CV292307 (NM_031296.3(RAB33B):c.*2599A>G) Homo sapiens

Symbol: CV292307
Name: NM_031296.3(RAB33B):c.*2599A>G
Condition: Smith-McCort dysplasia [RCV000304838]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: RAB33B  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.139475725A>G
NC_000004.11:g.140396879A>G
NM_031296.1:c.*2599A>G
NM_031296.3:c.*2599A>G
NG_051587.1:g.27494A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh384139,475,725 - 139,475,725CLINVAR
GRCh374140,396,879 - 140,396,879CLINVAR
Cytogenetic Map44q31.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11652444
Created: 2017-01-11
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.