Variant #0000021447 (NC_000006.11:g.10626785G>A, GCNT2(NM_145649.4):c.1154G>A)

Individual ID 00003050
Chromosome 6
Allele Unknown
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.10626785G>A
DNA change (hg38) g.10626552G>A
Published as 1148G>A (Arg383His)
ISCN -
DB-ID GCNT2_000002 See all 4 reported entries
Variant remarks -
Reference PubMed: Yu 2001, OMIM:var0002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
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 ?/? - c.1148G>A r.(?) p.(Arg383His)
GCNT2 NM_145649.4 ?/? - c.1154G>A r.(?) p.(Arg385His)
GCNT2 NM_145655.3 +/? 5 c.1154G>A r.(?) p.(Arg385His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002958 DNA SSCA - - GCNT2 1 Johan den Dunnen