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Variant : CV560302 (NM_001271723.1(FBXO38):c.1329C>A (p.Asp443Glu)) Homo sapiens

Symbol: CV560302
Name: NM_001271723.1(FBXO38):c.1329C>A (p.Asp443Glu)
Condition: Distal hereditary motor neuronopathy 2D [RCV000701288]
Clinical Significance: uncertain significance
Last Evaluated: 06/21/2018
Review Status: criteria provided, single submitter
Related Genes: FBXO38  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_033871.1:g.37058C>A
NP_001258652.1:p.Asp443Glu
NM_001271723.1:c.1329C>A
NC_000005.10:g.148415992C>A
NP_110420.3:p.Asp443Glu
NC_000005.9:g.147795555C>A
NM_030793.5:c.1329C>A
NM_205836.3:c.1329C>A
NM_030793.4:c.1329C>A
NP_995308.1:p.Asp443Glu
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,415,992 - 148,415,992CLINVAR
GRCh375147,795,555 - 147,795,555CLINVAR
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: 13807711
Created: 2018-11-06
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.