Variant #0000150061 (NC_000007.13:g.75583457G>C, NM_000941.2:c.147G>C (POR))
| Individual ID |
00091725 |
| Chromosome |
7 |
| 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.75583457G>C |
| DNA change (hg38) |
g.75954139G>C |
| Published as |
147G>C |
| ISCN |
- |
| DB-ID |
POR_000073 See all 2 reported entries |
| Variant remarks |
reference haplotype POR*25 |
| Reference |
Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee |
| ClinVar ID |
- |
| dbSNP ID |
rs56355228 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
| Owner |
Sarah C Sim |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Julia Lopez |
| Date created |
2016-12-15 19:35:13 +01:00 (CET) |
| Date last edited |
2016-12-17 11:43:33 +01:00 (CET) |

Variant on transcripts
Screenings
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