Variant #0000021439 (NC_000006.11:g.10626680G>A, GCNT2(NM_145649.4):c.1049G>A)

Individual ID 00003043
Chromosome 6
Allele Maternal (confirmed)
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.10626680G>A
DNA change (hg38) g.10626447G>A
Published as 1043G>A (Gly348Glu)
ISCN -
DB-ID GCNT2_000001 See all 9 reported entries
Variant remarks -
Reference PubMed: Yu 2001, OMIM:var0001
ClinVar ID -
dbSNP ID rs56141211
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-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.1043G>A r.(?) p.(Gly348Glu)
GCNT2 NM_145649.4 ?/? - c.1049G>A r.(?) p.(Gly350Glu)
GCNT2 NM_145655.3 +/? 5 c.1049G>A r.(?) p.(Gly350Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002951 DNA SEQ - - GCNT2 2 Johan den Dunnen