Variant #0002087292 (NC_000001.10:g.1192515A>G, NC_000001.10(NM_194457.1):c.120-5T>C (UBE2J2))

Individual ID 00000066
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1192515A>G
Reference -
DB-ID UBE2J2_000007 See all 2 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.0443 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 07:16:32 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
UBE2J2 NM_058167.2 ./. - c.276-5T>C 276 r.spl? p.? - splice 5
UBE2J2 NM_194315.1 ./. - c.324-5T>C 324 r.spl? p.? - splice 5
UBE2J2 NM_194457.1 ./. - c.120-5T>C 120 r.spl? p.? - splice 5
UBE2J2 NM_194458.1 ./. - c.120-5T>C 120 r.spl? p.? - splice 5



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000078 DNA SEQ-NG - - 51108 LOVD