Variant #0000813977 (NC_000009.11:g.102988434A>C, NM_014425.3:c.364A>C (INVS))
Individual ID |
00385225 |
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.102988434A>C |
DNA change (hg38) |
- |
Published as |
c.[364A>C];[=] |
ISCN |
- |
DB-ID |
INVS_000033 |
Variant remarks |
normal 2nd chromosome |
Reference |
PubMed: Redin-2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2021-10-09 03:44:00 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|