Variant #0000006296 (NC_000015.9:g.44867132G>A, SPG11(NM_025137.3):c.5974C>T)

Individual ID 00006310
Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44867132G>A
Reference Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al.
DB-ID SPG11_000004
Frequency -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPG11 NM_025137.3 ?/. 31 c.5974C>T r.(?) p.(Arg1992*)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006333 ? ? SPG11 1 XY Liu