Variant #0000006621 (NC_000015.9:g.45361221del, SORD(NM_003104.5):c.757del)

Individual ID 00006626
Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.45361221del
Reference Emilien Bernard, et al. (2022)
DB-ID SORD_000001
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
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     
SORD NM_003104.5 ?/. 7 c.757del r.(?) p.(Ala253Glnfs*27)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006650 ? ? SORD 1 XY Liu