Variant #0000815917 (NC_000020.10:g.741884T>G, NC_000020.10(NM_033409.3):c.1198-2A>C (SLC52A3))

Individual ID 00386537
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.741884T>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID SLC52A3_000050
Variant remarks -
Reference PubMed: Bosch 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-10-24 16:54:19 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC52A3 NM_033409.3 +/. - c.1198-2A>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000387765 DNA SEQ - - SLC52A3 1 Johan den Dunnen


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