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) |

Variant on transcripts
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