Variant #0000021428 (NC_000012.11:g.103271239C>T, PAH(NM_000277.1):c.441+1G>A)

Individual ID 00003036
Chromosome 12
Allele Parent #1
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.103271239C>T
DNA change (hg38) g.102877461C>T
Published as -
ISCN -
DB-ID PAH_000009 See all 2 reported entries
Variant remarks -
Reference PubMed: Sterl 2013
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 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 ?/? 4i c.441+1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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