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Variant : CV501208 (NM_001271723.1(FBXO38):c.2289+6G>A) Homo sapiens

Symbol: CV501208
Name: NM_001271723.1(FBXO38):c.2289+6G>A
Condition: not specified [RCV000613479]
Clinical Significance: likely benign
Last Evaluated: 07/25/2017
Review Status: criteria provided, single submitter
Related Genes: FBXO38  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001271723.1:c.2289+6G>A
NG_033871.1:g.59570G>A
NC_000005.10:g.148438504G>A
NC_000005.9:g.147818067G>A
NM_030793.5:c.2799+6G>A
NM_205836.3:c.3024+6G>A
NM_030793.4:c.2799+6G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,438,504 - 148,438,504CLINVAR
GRCh375147,818,067 - 147,818,067CLINVAR
Cytogenetic Map55q32CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13539581
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2020-05-26
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.