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Variant : CV698901 (NM_205836.3(FBXO38):c.2985C>T (p.Pro995=)) Homo sapiens

Symbol: CV698901
Name: NM_205836.3(FBXO38):c.2985C>T (p.Pro995=)
Condition: Distal hereditary motor neuronopathy 2D [RCV000946215]
Clinical Significance: benign
Last Evaluated: 12/31/2019
Review Status: criteria provided, single submitter
Related Genes: FBXO38  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001271723.1:c.2250C>T
NM_030793.5:c.2760C>T
NM_205836.3:c.2985C>T
NG_033871.1:g.59525C>T
NC_000005.10:g.148438459C>T
NC_000005.9:g.147818022C>T
NM_030793.4:c.2760C>T
NP_001258652.1:p.Pro750=
NP_110420.3:p.Pro920=
NP_995308.1:p.Pro995=
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,438,459 - 148,438,459CLINVAR
GRCh375147,818,022 - 147,818,022CLINVAR
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: 15154077
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.