Variant #0000048963 (NC_000012.11:g.103237750C>G, PAH(NM_000277.1):c.1066-193G>C)
Individual ID |
00025488 |
Chromosome |
12 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.103237750C>G |
DNA change (hg38) |
g.102843972C>G |
Published as |
IVS10-193G>C |
ISCN |
- |
DB-ID |
PAH_000013 |
Variant remarks |
- |
Reference |
PubMed: Ajami 2013, Journal: Ajami 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
Johan den Dunnen |

Variant on transcripts
Screenings
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