Variant #0000705418 (NC_000017.10:g.48272619C>T, NM_000088.3:c.1273G>A (COL1A1))
Individual ID |
00321300 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.48272619C>T |
DNA change (hg38) |
g.50195258C>T |
Published as |
- |
ISCN |
- |
DB-ID |
COL1A1_000085 See all 13 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs72648330 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Sofie Symoens |
Database submission license |
No license selected |
Created by |
Sofie Symoens |
Date created |
2011-09-21 13:19:04 +02:00 (CEST) |
Date last edited |
2021-05-27 16:12:08 +02:00 (CEST) |

Variant on transcripts
Screenings
|