Variant #0000822954 (NC_000003.11:g.57232428G>C, HESX1(NM_003865.2):c.450C>G)
Individual ID |
00391369 |
Chromosome |
3 |
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.57232428G>C |
DNA change (hg38) |
g.57198400G>C |
Published as |
HESX1 c.450C>G p.(Asp150Glu) |
ISCN |
- |
DB-ID |
HESX1_000014 |
Variant remarks |
heterozygous |
Reference |
PubMed: Méjécase 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |

Variant on transcripts
Screenings
|
|