Variant #0000540619 (NC_000010.10:g.73121779T>C, SLC29A3(NM_018344.5):c.842T>C)

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.73121779T>C
DNA change (hg38) g.71362022T>C
Published as SLC29A3(NM_001174098.1):c.*71T>C (p.(=)), SLC29A3(NM_018344.5):c.842T>C (p.L281P)
ISCN -
DB-ID SLC29A3_000027 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) 0.01044 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC29A3 NM_018344.5 -?/. - c.842T>C r.(?) p.(Leu281Pro)