Variant #0000000283 (NC_000012.11:g.103238125del, PAH(NM_000277.1):c.1055del)
Individual ID |
00000025 |
Chromosome |
12 |
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.103238125del |
DNA change (hg38) |
g.102844347del |
Published as |
- |
ISCN |
- |
DB-ID |
PAH_000002 See all 2 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Gerard C.P. Schaafsma |

Variant on transcripts
Screenings
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