Genomic variant #0000002158

Individual ID 00000010
Chromosome 1
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.209796557G>C
Reference dbSNP
DB-ID IRF6_000004 See all 8 reported entries
Frequency 0.292 Patients_Q37.5_right
Allele Count 14
Allele Number 48
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     
IRF6 NM_006147.3 ./. - c.175-5C>G - r.spl? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000011 DNA TaqMan - 250 Admin