Variant #0000116167 (NC_000001.10:g.241676902_241676905delinsT, FH(NM_000143.3):c.376_378+1delinsA)
Individual ID |
00073037 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.241676902_241676905delinsT |
DNA change (hg38) |
g.241513602_241513605delinsT |
Published as |
p.Glu83fs |
ISCN |
- |
DB-ID |
FH_000145 See all 2 reported entries |
Variant remarks |
FH enzymatic activity 55%. Splicesite mutation. |
Reference |
- |
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 |
Audrey Remenieras |
Database submission license |
No license selected |
Created by |
Audrey Remenieras |

Variant on transcripts
Screenings
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