Variant #0000252537 (NC_000012.11:g.103246692A>G, PAH(NM_000277.1):c.743T>C)
Chromosome |
12 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.103246692A>G |
DNA change (hg38) |
g.102852914A>G |
Published as |
PAH(NM_000277.1):c.743T>C (p.L248P) |
ISCN |
- |
DB-ID |
PAH_000082 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
VKGL-NL_Utrecht |

Variant on transcripts
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