Variant #0000798575 (NC_000006.11:g.1611072C>T, NM_001453.2:c.392C>T (FOXC1))
Individual ID |
00382914 |
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.1611072C>T |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
FOXC1_000065 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Youjia Zhang |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Youjia Zhang |
Date created |
2021-09-13 16:38:13 +02:00 (CEST) |
Date last edited |
2021-09-30 11:29:12 +02:00 (CEST) |

Variant on transcripts
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