Variant #0000017169 (NC_000001.10:g.171072985del, FMO3(NM_001002294.2):c.192del)

Individual ID 00103179
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.171072985del
DNA change (hg38) g.171103844del
Published as A191 deletion; g.11185delA
ISCN -
DB-ID FMO3_000036 See all 2 reported entries
Variant remarks Also known as M66X and K64Rfs. Truncated protein.
Rare variant, 1 individual, compound het with P153L
Reference PubMed: Zhang et al. 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 0/174 Chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.192del - r.(?) p.(Glu65Argfs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Genes screened     

Variants found     

Owner     
0000103633 DNA SEQ - - FMO3 1 Ornicha Prapapan