Variant #0000017104 (NC_000001.10:g.171073038T>C, FMO3(NM_001002294.2):c.245T>C)

Individual ID 00103169
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.171073038T>C
DNA change (hg38) g.171103897T>C
Published as g.11239T>C
ISCN -
DB-ID FMO3_000019 See all 3 reported entries
Variant remarks Rare variant. 1 homozygous proband. Filipino mother, father not known
Reference PubMed: Murphy et al. 2000
ClinVar ID -
dbSNP ID rs72549324
Origin Germline
Segregation yes
Frequency 0/50 chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0001 View details
Owner Ornicha Prapapan
Database submission license No license selected
Created by Ornicha Prapapan
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 3 c.245T>C - r.(?) p.(Met82Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103623 DNA SEQ - - FMO3 1 Ornicha Prapapan