Variant #0001974939 (NC_000005.9:g.149772237G>A, NC_000005.9(NM_001195141.1):c.3404-34G>A (TCOF1))

Individual ID 00000063
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.149772237G>A
Reference -
DB-ID TCOF1_000040 See all 6 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.06513 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 05:55:33 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
TCOF1 NM_000356.3 ./. - c.3287-34G>A 3287 r.(=) p.(=) - intron 34
TCOF1 NM_001135243.1 ./. - c.3518-34G>A 3518 r.(=) p.(=) - intron 34
TCOF1 NM_001135244.1 ./. - c.3404-31G>A 3404 r.(=) p.(=) - intron 31
TCOF1 NM_001135245.1 ./. - c.3287-31G>A 3287 r.(=) p.(=) - intron 31
TCOF1 NM_001195141.1 ./. - c.3404-34G>A 3404 r.(=) p.(=) - intron 34



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000075 DNA SEQ-NG - - 51213 LOVD