Variant #0000907424 (NC_000012.11:g.103310877A>T, PAH(NM_000277.1):c.32T>A)

Chromosome 12
Allele Unknown
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.103310877A>T
DNA change (hg38) g.102917099A>T
Published as -
ISCN -
DB-ID PAH_001632
Variant remarks -
Reference PubMed: Hillert 2020, data copied from the BIOPKU database
ClinVar ID -
dbSNP ID -
Origin Not applicable
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-12-06 18:01:45 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAH NM_000277.1 +/. 1 c.32T>A r.(?) p.(Leu11Ter)