Variant #0000048962 (NC_000012.11:g.103237958_103237959delinsCG, PAH(NM_000277.1):c.1065+155_1065+156delinsCG)
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.103237958_103237959delinsCG |
DNA change (hg38) |
g.102844180_102844181delinsCG |
Published as |
IVS10+155T>C, IVS10+156T>G |
ISCN |
- |
DB-ID |
PAH_000012 |
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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