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

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 -
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
Date created 2010-01-28 12:38:37 +01:00 (CET)
Date last edited 2010-01-29 13:19:19 +01:00 (CET)
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


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.