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Variant : CV730340 (NM_205836.3(FBXO38):c.1738+8T>A) Homo sapiens

Symbol: CV730340
Name: NM_205836.3(FBXO38):c.1738+8T>A
Condition: Distal hereditary motor neuronopathy 2D [RCV000886266]
Clinical Significance: benign
Last Evaluated: 12/31/2019
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.1738+8T>A
NM_030793.5:c.1738+8T>A
NM_205836.3:c.1738+8T>A
NG_033871.1:g.45191T>A
NC_000005.10:g.148424125T>A
NC_000005.9:g.147803688T>A
NM_030793.4:c.1738+8T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,424,125 - 148,424,125CLINVAR
GRCh375147,803,688 - 147,803,688CLINVAR
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: 15183625
Created: 2020-01-07
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.