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Variant : CV339659 (NM_016630.6(SPG21):c.-8A>C) Homo sapiens

Symbol: CV339659
Name: NM_016630.6(SPG21):c.-8A>C
Condition: Spastic Paraplegia, Recessive [RCV000375894]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SPG21  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_016630.6:c.-8A>C
NG_008992.2:g.11337A>C
NC_000015.10:g.64983577T>G
NC_000015.9:g.65275915T>G
NM_016630.3:c.-8A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381564,983,577 - 64,983,577CLINVAR
GRCh371565,275,915 - 65,275,915CLINVAR
Cytogenetic Map1515q22.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11623696
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-08-06
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.