Variant #0000021429 (NC_000012.11:g.103234271G>A, PAH(NM_000277.1):c.1222C>T)

Individual ID 00003036
Chromosome 12
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.103234271G>A
DNA change (hg38) g.102840493G>A
Published as -
ISCN -
DB-ID PAH_000010 See all 6 reported entries
Variant remarks missense variant, catalytic domain, PAH-activity 2%
Reference PubMed: Sterl 2013
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00115 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAH NM_000277.1 ?/? 12 c.1222C>T r.(?) p.(Arg408Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002944 DNA PCR;SEQ - - PAH 2 Johan den Dunnen