Variant #0000128188 (NC_000001.10:g.241680543C>A, FH(NM_000143.3):c.206G>T)
Individual ID |
00079409 |
Chromosome |
1 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.241680543C>A |
DNA change (hg38) |
g.241517243C>A |
Published as |
G69V |
ISCN |
- |
DB-ID |
FH_000175 |
Variant remarks |
- |
Reference |
PubMed: Laufer |
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 |
Jean-Pierre Bayley |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |

Variant on transcripts
Screenings
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