Variant #0000174163 (NC_000010.10:g.73122246G>A, SLC29A3(NM_018344.5):c.1309G>A)

Individual ID 00107787
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.73122246G>A
DNA change (hg38) g.71362489G>A
Published as -
ISCN -
DB-ID SLC29A3_000001 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-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.1309G>A r.(?) p.Gly437Arg



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108258 DNA SEQ - - SLC29A3 1 Johan den Dunnen