Variant #0000252522 (NC_000012.11:g.103288671A>G, PAH(NM_000277.1):c.194T>C)

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.103288671A>G
DNA change (hg38) g.102894893A>G
Published as PAH(NM_000277.1):c.194T>C (p.I65T), PAH(NM_000277.2):c.194T>C (p.I65T)
ISCN -
DB-ID PAH_000145 See all 4 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) 0.00038 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.194T>C r.(?) p.(Ile65Thr)