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Variant : CV339640 (NM_016630.6(SPG21):c.*19T>A) Homo sapiens

Symbol: CV339640
Name: NM_016630.6(SPG21):c.*19T>A
Condition: Spastic Paraplegia, Recessive [RCV000358983]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SPG21  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NM_016630.6:c.*19T>A
NG_008992.2:g.31313T>A
NC_000015.10:g.64963601A>T
NC_000015.9:g.65255942A>T
NM_016630.3:c.*19T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381564,963,601 - 64,963,601CLINVAR
GRCh371565,255,942 - 65,255,942CLINVAR
Cytogenetic Map1515q22.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11622344
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.