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Variant : CV455567 (NM_205836.3(FBXO38):c.2199C>T (p.Ser733=)) Homo sapiens

Symbol: CV455567
Name: NM_205836.3(FBXO38):c.2199C>T (p.Ser733=)
Condition: Distal hereditary motor neuronopathy 2D [RCV000526026]
Clinical Significance: likely benign
Last Evaluated: 12/31/2019
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_030793.5:c.2199C>T
NM_205836.3:c.2199C>T
NM_030793.4:c.2199C>T
NP_995308.1:p.Ser733=
NC_000005.9:g.147807056C>T
NM_001271723.1:c.1918+1792C>T
NG_033871.1:g.48559C>T
NC_000005.10:g.148427493C>T
NP_110420.3:p.Ser733=
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,427,493 - 148,427,493CLINVAR
GRCh375147,807,056 - 147,807,056CLINVAR
Cytogenetic Map55q32CLINVAR
Trait Synonyms: HMN IID; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13474863
Created: 2018-01-09
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.