Genomic variant #0000000282

Individual ID 00000007
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.103260383T>C
DNA change (hg38) g.102866605T>C
Published as -
ISCN -
DB-ID PAH_000001 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00554 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PAH NM_000277.1 ?/. - c.500A>G - r.(?) p.(Asn167Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000007 DNA SEQ-NG - - ACADM, ATP7B, CDH23, HESX1, HGSNAT, NPHS1, PAH, PKHD1, SERPINA1 9 LOVD-team, but with Curator vacancy