Genomic variant #0000000286

Individual ID 00000010
Chromosome 12
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.103234270C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID PAH_000005
Variant remarks -
Reference -
dbSNP ID -
Germline/Somatic/De novo Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
PAH NM_000277.1 ?/. - c.1223G>A - r.(?) p.(Arg408Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000010 DNA NGS - - ACADM, ATP7B, BTD, CLN3, CPT1A, DGUOK, ERCC6, ETFB, NHLRC1, PAH 12 LOVD-team, but with Curator vacancy