Genomic variant #0000000284

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.103246593G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PAH_000003
Variant remarks -
Reference PAH record 309
dbSNP ID -
Germline/Somatic/De novo Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
PAH NM_000277.1 ?/. 7 c.842C>T - r.(?) p.(Pro281Leu)



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