Variant #0000116126 (NC_000001.10:g.241677015_241680556del, FH(NM_000143.3):c.195_268del)
Individual ID |
00072576 |
Chromosome |
1 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.241677015_241680556del |
DNA change (hg38) |
g.241513715_241517256del |
Published as |
66del74bases |
ISCN |
- |
DB-ID |
FH_000007 |
Variant remarks |
- |
Reference |
PubMed: Coughlin |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Jean-Pierre Bayley |
Database submission license |
Creative Commons Attribution-NonCommercial 4.0 International |
Created by |
Jean-Pierre Bayley |

Variant on transcripts
Screenings
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