Variant #0000681699 (NC_000020.10:g.746371G>C, NM_033409.3:c.48C>G (SLC52A3))

Chromosome 20
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.746371G>C
DNA change (hg38) -
Published as SLC52A3(NM_001370086.1):c.48C>G (p.S16=), SLC52A3(NM_033409.3):c.48C>G (p.S16=)
ISCN -
DB-ID SLC52A3_000044 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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2024-10-29 21:08:56 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC52A3 NM_033409.3 -?/. - c.48C>G r.(?) p.(Ser16=)


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