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Variant : CV560191 (NM_001271723.1(FBXO38):c.2801A>G (p.Asn934Ser)) Homo sapiens

Symbol: CV560191
Name: NM_001271723.1(FBXO38):c.2801A>G (p.Asn934Ser)
Condition: Distal hereditary motor neuronopathy 2D [RCV000705337]
Clinical Significance: uncertain significance
Last Evaluated: 07/20/2018
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.2801A>G
NG_033871.1:g.63182A>G
NC_000005.10:g.148442116A>G
NC_000005.9:g.147821679A>G
NP_110420.3:p.Asn1104Ser
NP_001258652.1:p.Asn934Ser
NM_030793.5:c.3311A>G
NM_205836.3:c.3536A>G
NM_030793.4:c.3311A>G
NP_995308.1:p.Asn1179Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,442,116 - 148,442,116CLINVAR
GRCh375147,821,679 - 147,821,679CLINVAR
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: 13814887
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.