Variant #0000897378 (NC_000012.11:g.103237555G>T, NM_000277.1:c.1068C>A (PAH))

Individual ID 00421054
Chromosome 12
Allele Parent #1
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.103237555G>T
DNA change (hg38) g.102843777G>T
Published as -
ISCN -
DB-ID PAH_000226 See all 19 reported entries
Variant remarks -
Reference PubMed: Lee 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-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
Date created 2022-11-03 17:12:20 +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 +/. 11 c.1068C>A r.(?) p.(Tyr356Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000422365 DNA MLPA;PCR;SEQ - - PAH 2 Johan den Dunnen


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