Variant #0000021437 (NC_000006.11:g.10529827G>A, GCNT2(NM_145649.4):c.683G>A)

Individual ID 00003042
Chromosome 6
Allele Parent #2
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.10529827G>A
DNA change (hg38) g.10529594G>A
Published as -
ISCN -
DB-ID GCNT2_000005 See all 2 reported entries
Variant remarks not in 102 control chromosomes
Reference PubMed: Yu 2003, OMIM:var0005
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 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 ?/? _1 c.-26830G>A r.(=) p.(=)
GCNT2 NM_145649.4 +/? 3 c.683G>A r.(?) p.(Arg228Gln)
GCNT2 NM_145655.3 ?/? _1 c.-56396G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002950 DNA PCRdig;SEQ - - GCNT2 2 Johan den Dunnen