Genomic variant #0000018056

Individual ID 00103139
Chromosome 1
Allele Maternal (confirmed)
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.171086305T>C
DNA change (hg38) g.171117165T>C
Published as g.30222T>C (Ile441Thr)
ISCN -
DB-ID FMO3_000081 See all 2 reported entries
Variant remarks -
Reference PubMed: Shimizu 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 1/1280 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 +/+ 9 c.1322T>C - r.(?) p.(Ile441Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103593 DNA SEQ - - FMO3 3 Ornicha Prapapan