Variant #0000540620 (NC_000010.10:g.73121883T>G, SLC29A3(NM_018344.5):c.946T>G)

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.73121883T>G
DNA change (hg38) g.71362126T>G
Published as SLC29A3(NM_001363518.1):c.712T>G (p.F238V), SLC29A3(NM_018344.5):c.946T>G (p.F316V)
ISCN -
DB-ID SLC29A3_000037 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00077 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC29A3 NM_018344.5 -?/. - c.946T>G r.(?) p.(Phe316Val)