Variant #0000393247 (NC_000023.10:g.49455976C>T, PAGE1(NM_003785.3):c.168G>A)
Individual ID |
00172507 |
Chromosome |
X |
Allele |
Parent #1 |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.49455976C>T |
DNA change (hg38) |
g.49691373C>T |
Published as |
G56G |
ISCN |
- |
DB-ID |
PAGE1_000006 See all 2 reported entries |
Variant remarks |
recurrent, found 2 times |
Reference |
PubMed: Tarpey 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
2/208 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.0035 View details |
Owner |
Lucy Raymond |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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