Variant #0000000093 (NC_000001.10:g.43225040G>A, P3H1(NM_022356.3):c.640C>T)
Individual ID |
00000039 |
Chromosome |
1 |
Allele |
Unknown |
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.43225040G>A |
DNA change (hg38) |
g.42759369G>A |
Published as |
- |
ISCN |
- |
DB-ID |
P3H1_000001 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
Owner |
Gerard C.P. Schaafsma |

Variant on transcripts
Screenings
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