Variant #0000174156 (NC_000010.10:g.73121877del, SLC29A3(NM_018344.5):c.940del)

Individual ID 00107781
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.73121877del
DNA change (hg38) g.71362120del
Published as -
ISCN -
DB-ID SLC29A3_000005
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.940del r.(?) p.(Tyr314ThrfsTer91)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108252 DNA SEQ - - SLC29A3 1 Johan den Dunnen