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Variant : CV341019 (NM_016630.6(SPG21):c.-174A>G) Homo sapiens

Symbol: CV341019
Name: NM_016630.6(SPG21):c.-174A>G
Condition: Spastic Paraplegia, Recessive [RCV000317691]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SPG21  
Variant Type: single nucleotide variant (SO:0001636)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant
Evidence: clinical testing
HGVS Name(s): NM_016630.6:c.-174A>G
NM_001127889.4:c.-433A>G
NG_008992.2:g.5100A>G
NC_000015.10:g.64989814T>C
NC_000015.9:g.65282152T>C
NM_016630.3:c.-174A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381564,989,814 - 64,989,814CLINVAR
GRCh371565,282,152 - 65,282,152CLINVAR
Cytogenetic Map1515q22.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11654479
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.