Genomic variant #0000017088

Individual ID 00103178
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.171061893G>A
DNA change (hg38) g.171092752G>A
Published as g.94G>A
ISCN -
DB-ID FMO3_000003 See all 3 reported entries
Variant remarks rare variant. Het in 1 individual
Reference PubMed: Zhang et al. 2003
ClinVar ID -
dbSNP ID rs72549320
Origin Germline
Segregation yes
Frequency 0/98 chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Ornicha Prapapan
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 2 c.94G>A - r.(?) p.(Glu32Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103632 DNA SEQ - - FMO3 1 Ornicha Prapapan