Variant #0000540618 (NC_000010.10:g.73115845C>T, SLC29A3(NM_018344.5):c.618C>T)

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.73115845C>T
DNA change (hg38) g.71356088C>T
Published as SLC29A3(NM_001174098.1):c.618C>T (p.A206=, p.=)
ISCN -
DB-ID SLC29A3_000036 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 (large NGS studies) 0.00323 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC29A3 NM_018344.5 -/. - c.618C>T r.(?) p.(Ala206=)