Variant #0000797387 (NC_000006.11:g.1611733_1611736dup, NM_001453.2:c.1053_1056dup (FOXC1))
Individual ID |
00382110 |
Chromosome |
6 |
Allele |
Unknown |
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.1611733_1611736dup |
DNA change (hg38) |
g.1611498_1611501dup |
Published as |
c.1053_1056dup; p.Tyr353Argfs*176 |
ISCN |
- |
DB-ID |
FOXC1_000055 |
Variant remarks |
no Sanger sequencing; heterozygous |
Reference |
PubMed: Patel 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-09-07 10:12:12 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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