Variant #0000174161 (NC_000010.10:g.73122216G>A, SLC29A3(NM_018344.5):c.1279G>A)

Individual ID 00107785
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.73122216G>A
DNA change (hg38) g.71362459G>A
Published as -
ISCN -
DB-ID SLC29A3_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC29A3 NM_018344.5 +?/? 6 c.1279G>A r.(?) p.Gly427Ser



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108256 DNA SEQ - - SLC29A3 1 Johan den Dunnen