Variant #0000174167 (NC_000010.10:g.73122267G>T, SLC29A3(NM_018344.5):c.1330G>T)

Individual ID 00107791
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.73122267G>T
DNA change (hg38) g.71362510G>T
Published as -
ISCN -
DB-ID SLC29A3_000006
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Johan den Dunnen
Database submission license No license selected
Created by Neil Morgan
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC29A3 NM_018344.5 +/+ 6 c.1330G>T r.(?) p.Glu444X



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108262 DNA SEQ - - SLC29A3 1 Johan den Dunnen