Variant #0000017105 (NC_000001.10:g.171076922T>A, NM_001002294.2:c.428T>A (FMO3))

Individual ID 00103183
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.171076922T>A
DNA change (hg38) g.171107781T>A
Published as g.15123T>A
ISCN -
DB-ID FMO3_000020
Variant remarks Polymorphic variant (0.07 frequency). One proband, in cis with the common polymorphic variant p.Glu158Lys and compound het with p.Pro153Leu.
Reference PubMed: Basarab et al. 1999
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 6/88 chromosomes
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Ornicha Prapapan
Database submission license No license selected
Created by Ornicha Prapapan
Date created 2013-02-27 23:17:59 +01:00 (CET)
Date last edited 2017-04-05 10:54:58 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 ?/? 4 c.428T>A - r.(?) p.(Val143Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103637 DNA SEQ - - FMO3 1 Ornicha Prapapan


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