Variant #0000116149 (NC_000001.10:g.241676972G>A, FH(NM_000143.3):c.309C>T)
Individual ID |
00073042 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Probably does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.241676972G>A |
DNA change (hg38) |
g.241513672G>A |
Published as |
p.Ala60Ala |
ISCN |
- |
DB-ID |
FH_000016 See all 5 reported entries |
Variant remarks |
Fh activity : normal |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs10926501 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00671 View details |
Owner |
Audrey Remenieras |
Database submission license |
No license selected |
Created by |
Audrey Remenieras |

Variant on transcripts
Screenings
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