Variant #0000021504 (NC_000006.11:g.10621641G>A, GCNT2(NM_145649.4):c.983G>A)

Individual ID 00003076
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.10621641G>A
DNA change (hg38) g.10621408G>A
Published as -
ISCN -
DB-ID GCNT2_000009 See all 8 reported entries
Variant remarks -
Reference PubMed: Pras 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GCNT2 NM_001491.2 +/? 4 c.977G>A r.(?) p.(Trp326*)
GCNT2 NM_145649.4 +/? 4 c.983G>A r.(?) p.(Trp328*)
GCNT2 NM_145655.3 +/? 4 c.983G>A r.(?) p.(Trp328*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002989 DNA SEQ - - GCNT2 1 Johan den Dunnen