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Variant : CV521122 (NM_001271723.1(FBXO38):c.1918+1769G>A) Homo sapiens

Symbol: CV521122
Name: NM_001271723.1(FBXO38):c.1918+1769G>A
Condition: Distal hereditary motor neuronopathy 2D [RCV000651202]
Clinical Significance: uncertain significance
Last Evaluated: 11/02/2018
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_001271723.1:c.1918+1769G>A
NG_033871.1:g.48536G>A
NC_000005.10:g.148427470G>A
NC_000005.9:g.147807033G>A
NP_110420.3:p.Asp726Asn
NP_995308.1:p.Asp726Asn
NM_030793.5:c.2176G>A
NM_205836.3:c.2176G>A
NM_030793.4:c.2176G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,427,470 - 148,427,470CLINVAR
GRCh375147,807,033 - 147,807,033CLINVAR
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: 13623542
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.