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Variant : CV339646 (NM_016630.6(SPG21):c.114C>A (p.Gly38=)) Homo sapiens

Symbol: CV339646
Name: NM_016630.6(SPG21):c.114C>A (p.Gly38=)
Condition: Spastic Paraplegia, Recessive [RCV000324933]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SPG21  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_016630.6:c.114C>A
NG_008992.2:g.13939C>A
NC_000015.10:g.64980975G>T
NC_000015.9:g.65273313G>T
NM_016630.3:c.114C>A
NP_057714.1:p.Gly38=
Position
Human AssemblyChrPosition (strand)Source
GRCh381564,980,975 - 64,980,975CLINVAR
GRCh371565,273,313 - 65,273,313CLINVAR
Cytogenetic Map1515q22.31CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11619401
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.