Variant #0000915436 (NC_000020.10:g.744510G>A, NM_033409.3:c.705C>T (SLC52A3))

Chromosome 20
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.744510G>A
DNA change (hg38) -
Published as SLC52A3(NM_001370086.1):c.705C>T (p.L235=)
ISCN -
DB-ID SLC52A3_000057
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) 0.0027 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2023-01-11 15:44:22 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC52A3 NM_033409.3 -/. - c.705C>T r.(?) p.(Leu235=)


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