Genomic variant #0000018044

Individual ID 00103135
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.171077295T>C
DNA change (hg38) g.171108154T>C
Published as -
ISCN -
DB-ID FMO3_000070 See all 3 reported entries
Variant remarks Rare variant. One proband in 100 individuals. Compound het with p.Glu305*. No effect when present alone, but severe reduction of activity when present in cis with p.Glu158Lys.
Reference PubMed: Motika et al. 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
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 +/+ 5 c.560T>C - r.(?) p.(Val187Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103589 DNA SEQ - - FMO3 1 Ornicha Prapapan