Variant #0000252514 (NC_000012.11:g.103249099A>G, PAH(NM_000277.1):c.521T>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.103249099A>G
DNA change (hg38) g.102855321A>G
Published as PAH(NM_000277.1):c.521T>C (p.I174T)
ISCN -
DB-ID PAH_000111
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAH NM_000277.1 +/. - c.521T>C r.(?) p.(Ile174Thr)