Variant #0000019561 (NC_000001.10:g.171077252A>C, FMO3(NM_001002294.2):c.517A>C)

Individual ID 00103155
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.171077252A>C
DNA change (hg38) g.171108111A>C
Published as S173R
ISCN -
DB-ID FMO3_000102 See all 2 reported entries
Variant remarks One proband, compound het with P153L. DNA change was not reported so could be c.517A>C or c.519C>G.
Reference PubMed: Mayatepek et al. 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Elizabeth A. Shephard
Database submission license No license selected
Created by Elizabeth A. Shephard
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 5 c.517A>C - r.(?) p.(Ser173Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103609 DNA SEQ - - FMO3 1 Elizabeth A. Shephard