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Variant : CV562927 (NM_205836.3(FBXO38):c.2889G>C (p.Lys963Asn)) Homo sapiens

Symbol: CV562927
Name: NM_205836.3(FBXO38):c.2889G>C (p.Lys963Asn)
Condition: Distal hereditary motor neuronopathy 2D [RCV000705356]
Clinical Significance: uncertain significance
Last Evaluated: 12/30/2019
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.2154G>C
NG_033871.1:g.59429G>C
NC_000005.10:g.148438363G>C
NC_000005.9:g.147817926G>C
NP_001258652.1:p.Lys718Asn
NP_110420.3:p.Lys888Asn
NM_030793.4:c.2664G>C
NP_995308.1:p.Lys963Asn
NM_030793.5:c.2664G>C
NM_205836.3:c.2889G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,438,363 - 148,438,363CLINVAR
GRCh375147,817,926 - 147,817,926CLINVAR
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: 13814915
Created: 2018-11-06
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.