Genomic variant #0000017086

Individual ID 00103158
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.171076952C>T
DNA change (hg38) g.171107811C>T
Published as g.15153C>T
ISCN -
DB-ID FMO3_000001 See all 5 reported entries
Variant remarks Rare variant. 14 probands of European origin
Reference PubMed: Dolphin et al. 1997, PubMed: Treacy et al. 1998
ClinVar ID -
dbSNP ID rs72549326
Origin Germline
Segregation yes
Frequency 0/60 chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00246 View details
Owner Ornicha Prapapan
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 4 c.458C>T - r.(?) p.(Pro153Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103612 DNA SEQ - - FMO3 1 Ornicha Prapapan