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
Screenings
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