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Variant : CV323048 (NM_016630.6(SPG21):c.-213C>T) Homo sapiens

Symbol: CV323048
Name: NM_016630.6(SPG21):c.-213C>T
Condition: Spastic Paraplegia, Recessive [RCV000372302]
Clinical Significance: benign
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.-213C>T
NM_001127889.4:c.-472C>T
NG_008992.2:g.5061C>T
NC_000015.10:g.64989853G>A
NC_000015.9:g.65282191G>A
NM_016630.3:c.-213C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381564,989,853 - 64,989,853CLINVAR
GRCh371565,282,191 - 65,282,191CLINVAR
Cytogenetic Map1515q22.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11609760
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.