Variant #0000647959 (NC_000010.10:g.73082812G>A, SLC29A3(NM_018344.5):c.300+1G>A)

Individual ID 00290102
Chromosome 10
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.73082812G>A
DNA change (hg38) g.71323055G>A
Published as -
ISCN -
DB-ID SLC29A3_000010 See all 2 reported entries
Variant remarks 5 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs587780463
Origin Germline
Segregation -
Frequency 5/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC29A3 NM_018344.5 +/. - c.300+1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291270 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq