Variant #0000438424 (NC_000020.10:g.741763del, SLC52A3(NM_033409.3):c.1317del)

Individual ID 00207500
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.741763del
DNA change (hg38) g.761119del
Published as -
ISCN -
DB-ID SLC52A3_000018 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gunnar Schmidt
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC52A3 NM_033409.3 +/. - c.1317del r.(?) p.(Ser440Argfs*65)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208538 DNA SEQ-NG-I peripheral blood WES - 2 Gunnar Schmidt