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Variant : CV698898 (NM_001271723.1(FBXO38):c.1918+1774T>C) Homo sapiens

Symbol: CV698898
Name: NM_001271723.1(FBXO38):c.1918+1774T>C
Condition: not provided [RCV000945824]
Clinical Significance: likely benign
Last Evaluated: 07/03/2018
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.1918+1774T>C
NM_030793.5:c.2181T>C
NM_205836.3:c.2181T>C
NG_033871.1:g.48541T>C
NC_000005.10:g.148427475T>C
NC_000005.9:g.147807038T>C
NM_030793.4:c.2181T>C
NP_110420.3:p.Phe727=
NP_995308.1:p.Phe727=
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,427,475 - 148,427,475CLINVAR
GRCh375147,807,038 - 147,807,038CLINVAR
Cytogenetic Map55q32CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15152147
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-05-19
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.