Variant #0000006528 (NC_000023.10:g.56591822C>T, UBQLN2(NM_013444.3):c.1516C>T)

Individual ID 00006535
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56591822C>T
Reference Soragia Athina Gkazi, et al. (2019)
DB-ID UBQLN2_000008 See all 2 reported entries
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     

Variant/VariO/DNA     

Variant/VariO/protein     
UBQLN2 NM_013444.3 ?/. 1 c.1516C>T r.(?) p.(Pro506Ser) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006559 ? ? UBQLN2 1 XY Liu