Variant #0000252497 (NC_000012.11:g.103245481A>C, PAH(NM_000277.1):c.896T>G)

Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.103245481A>C
DNA change (hg38) g.102851703A>C
Published as PAH(NM_000277.1):c.896T>G (p.F299C)
ISCN -
DB-ID PAH_000063 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAH NM_000277.1 +/. - c.896T>G r.(?) p.(Phe299Cys)