Variant #0000174160 (NC_000010.10:g.73122094G>A, SLC29A3(NM_018344.5):c.1157G>A)

Individual ID 00107780
Chromosome 10
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.73122094G>A
DNA change (hg38) g.71362337G>A
Published as -
ISCN -
DB-ID SLC29A3_000015
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Philippe Campeau
Database submission license No license selected
Created by Philippe Campeau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC29A3 NM_018344.5 +/? 6 c.1157G>A r.(?) p.Arg386Gln



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108251 DNA SEQ - - SLC29A3 2 Philippe Campeau