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Variant : CV521135 (NM_001271723.1(FBXO38):c.2020G>A (p.Val674Ile)) Homo sapiens

Symbol: CV521135
Name: NM_001271723.1(FBXO38):c.2020G>A (p.Val674Ile)
Condition: Distal hereditary motor neuronopathy 2D [RCV000651191]
Clinical Significance: uncertain significance
Last Evaluated: 11/01/2017
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_205836.3:c.2755G>A
NM_030793.5:c.2530G>A
NP_995308.1:p.Val919Ile
NM_001271723.1:c.2020G>A
NG_033871.1:g.54701G>A
NC_000005.10:g.148433635G>A
NC_000005.9:g.147813198G>A
NP_001258652.1:p.Val674Ile
NP_110420.3:p.Val844Ile
NM_030793.4:c.2530G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,433,635 - 148,433,635CLINVAR
GRCh375147,813,198 - 147,813,198CLINVAR
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: 13623531
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.