Genomic variant #0000000558

Individual ID 00000051
Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.80472526C>T
DNA change (hg38) g.80180184C>T
Published as -
ISCN -
DB-ID FAH_000001 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.0163 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FAH NM_000137.2 ?/. 12 c.1021C>T - r.(?) p.(Arg341Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000051 DNA SEQ-NG - - AGXT, AHI1, ATP7B, DPYD, ETFB, FAH, GALC, GLB1, IGHMBP2, MYO5A, NHLRC1, NPHS1, PKHD1 14 LOVD-team, but with Curator vacancy