Variant #0000401478 (NC_000016.9:g.2546553C>T, NM_001199107.1:c.404C>T (TBC1D24))
Chromosome |
16 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2546553C>T |
DNA change (hg38) |
g.2496552C>T |
Published as |
- |
ISCN |
- |
DB-ID |
TBC1D24_000076 See all 2 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Somatic |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Jing Zhang |
Database submission license |
No license selected |
Created by |
Jing Zhang |
Date created |
2018-08-20 04:57:47 +02:00 (CEST) |
Date last edited |
2018-08-22 18:30:50 +02:00 (CEST) |

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