Variant #0000248234 (NC_000012.11:g.103306550A>G, PAH(NM_000277.1):c.168+19T>C)

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.103306550A>G
DNA change (hg38) g.102912772A>G
Published as PAH(NM_000277.1):c.168+19T>C, PAH(NM_000277.2):c.168+19T>C
ISCN -
DB-ID PAH_000130 See all 3 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) 0.20691 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAH NM_000277.1 -/. - c.168+19T>C r.(=) p.(=)