Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV691768 (NM_205836.3(FBXO38):c.1560C>T (p.Asp520=)) Homo sapiens

Symbol: CV691768
Name: NM_205836.3(FBXO38):c.1560C>T (p.Asp520=)
Condition: Distal hereditary motor neuronopathy 2D [RCV000876548]
Clinical Significance: likely 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.1560C>T
NM_030793.5:c.1560C>T
NM_205836.3:c.1560C>T
NG_033871.1:g.38212C>T
NC_000005.10:g.148417146C>T
NC_000005.9:g.147796709C>T
NM_030793.4:c.1560C>T
NP_001258652.1:p.Asp520=
NP_110420.3:p.Asp520=
NP_995308.1:p.Asp520=
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,417,146 - 148,417,146CLINVAR
GRCh375147,796,709 - 147,796,709CLINVAR
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: 15134912
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.