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Variant : CV521139 (NM_205836.3(FBXO38):c.3120G>C (p.Arg1040=)) Homo sapiens

Symbol: CV521139
Name: NM_205836.3(FBXO38):c.3120G>C (p.Arg1040=)
Condition: Distal hereditary motor neuronopathy 2D [RCV000651207]
Clinical Significance: likely benign
Last Evaluated: 12/31/2019
Review Status: criteria provided, single submitter
Related Genes: FBXO38  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001271723.1:c.2385G>C
NG_033871.1:g.60808G>C
NC_000005.10:g.148439742G>C
NC_000005.9:g.147819305G>C
NP_001258652.1:p.Arg795=
NP_110420.3:p.Arg965=
NM_030793.5:c.2895G>C
NM_205836.3:c.3120G>C
NM_030793.4:c.2895G>C
NP_995308.1:p.Arg1040=
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,439,742 - 148,439,742CLINVAR
GRCh375147,819,305 - 147,819,305CLINVAR
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: 13623587
Created: 2018-06-12
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.