Variant #0000140626 (NC_000006.11:g.10529649G>A, GCNT2(NM_145649.4):c.505G>A)

Individual ID 00088062
Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.10529649G>A
DNA change (hg38) g.10529416G>A
Published as -
ISCN -
DB-ID GCNT2_000004 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ivan Prokudin
Database submission license No license selected
Created by Ivan Prokudin
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GCNT2 NM_145649.4 -/? 4 c.505G>A r.(?) p.(Ala169Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088202 DNA SEQ-NG-I - - GCNT2 1 Ivan Prokudin