Variant #0000897122 (NC_000012.11:g.103234270C>T, PAH(NM_000277.1):c.1223G>A)

Individual ID 00420861
Chromosome 12
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.103234270C>T
DNA change (hg38) g.102840492C>T
Published as -
ISCN -
DB-ID PAH_000005 See all 50 reported entries
Variant remarks -
Reference PubMed: Liang 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 17/142 case chromosomes
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAH NM_000277.1 +/. - c.1223G>A r.(?) p.(Arg408Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000422172 DNA SEQ - - PAH 2 Johan den Dunnen