Variant #0000454950 (NC_000010.10:g.89469046C>T, NM_001015880.1:c.121C>T (PAPSS2))

Individual ID 00218985
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.89469046C>T
DNA change (hg38) g.87709289C>T
Published as -
ISCN -
DB-ID PAPSS2_000014 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Allan Richards
Database submission license No license selected
Created by Allan Richards
Date created 2019-02-05 11:54:25 +01:00 (CET)
Date last edited 2019-03-27 17:32:26 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAPSS2 NM_001015880.1 +/. - c.121C>T r.(?) p.(Arg41*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220057 DNA SEQ-NG - - - 1 Allan Richards


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