Genomic variant #0000438439

Individual ID 00207521
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.741763del
DNA change (hg38) -
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC52A3 NM_033409.3 +?/. - c.1317del ACMG: 4 r.(?) p.(Ser440Argfs*65)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208560 DNA SEQ-NG-I peripheral blood - - 2 Gunnar Schmidt