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Variant : CV633599 (NM_001271723.1(FBXO38):c.2526C>G (p.Ile842Met)) Homo sapiens

Symbol: CV633599
Name: NM_001271723.1(FBXO38):c.2526C>G (p.Ile842Met)
Condition: Distal hereditary motor neuronopathy 2D [RCV000792001]
Clinical Significance: uncertain significance
Last Evaluated: 10/10/2018
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): NC_000005.10:g.148440514C>G
NC_000005.9:g.147820077C>G
NM_030793.4:c.3036C>G
NP_110420.3:p.Ile1012Met
NP_995308.1:p.Ile1087Met
NM_205836.3:c.3261C>G
NG_033871.1:g.61580C>G
NM_001271723.1:c.2526C>G
NM_030793.5:c.3036C>G
NP_001258652.1:p.Ile842Met
Position
Human AssemblyChrPosition (strand)Source
GRCh385148,440,514 - 148,440,514CLINVAR
GRCh375147,820,077 - 147,820,077CLINVAR
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: 14706450
Created: 2019-09-06
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.