Variant #0000647445 (NC_000001.10:g.171072965G>A, FMO3(NM_001002294.2):c.172G>A)

Individual ID 00289588
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.171072965G>A
DNA change (hg38) g.171103824G>A
Published as -
ISCN -
DB-ID FMO3_000007 See all 8 reported entries
Variant remarks 16 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs144935285
Origin Germline
Segregation -
Frequency 16/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00034 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 ?/. - c.172G>A - r.(?) p.(Val58Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290756 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq