Variant #0001735274 (NC_000001.10:g.33777670_33777673del, NM_001080438.1:c.315_318del (A3GALT2))

Individual ID 00000059
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33777670_33777673del
Reference -
DB-ID A3GALT2_000002
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.01513 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 04:14:57 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Splice distance     

GVS function     

Protein     

PolyPhen prediction     

Position     
A3GALT2 NM_001080438.1 ./. - c.315_318del r.(?) - frameshift p.(Thr106SerfsTer4) - 315



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000071 DNA SEQ-NG - - 51302 LOVD