Variant #0000000289 (NC_000012.11:g.103234177C>T, PAH(NM_000277.1):c.1315+1G>A)
Individual ID |
00000097 |
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.103234177C>T |
DNA change (hg38) |
g.102840399C>T |
Published as |
INTRON 12, IVS12+1G>A, CHR12:101758307G>A |
ISCN |
- |
DB-ID |
PAH_000008 See all 10 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (large NGS studies) |
0.00039 View details |
Owner |
Gerard C.P. Schaafsma |

Variant on transcripts
Screenings
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