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Variant : CV521145 (NM_001271723.1(FBXO38):c.2693C>T (p.Ala898Val)) Homo sapiens

Symbol: CV521145
Name: NM_001271723.1(FBXO38):c.2693C>T (p.Ala898Val)
Condition: Distal hereditary motor neuronopathy 2D [RCV000651196]
Clinical Significance: uncertain significance
Last Evaluated: 09/24/2018
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): NM_001271723.1:c.2693C>T
NG_033871.1:g.63074C>T
NC_000005.10:g.148442008C>T
NC_000005.9:g.147821571C>T
NP_110420.3:p.Ala1068Val
NP_001258652.1:p.Ala898Val
NM_030793.5:c.3203C>T
NM_205836.3:c.3428C>T
NM_030793.4:c.3203C>T
NP_995308.1:p.Ala1143Val
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,442,008 - 148,442,008CLINVAR
GRCh375147,821,571 - 147,821,571CLINVAR
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: 13623536
Created: 2018-06-12
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.