Variant #0000697980 (NC_000006.11:g.10626677A>G, GCNT2(NM_145649.4):c.1046A>G)

Individual ID 00314705
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.10626677A>G
DNA change (hg38) g.10626444A>G
Published as NM_001491.2:c.1040A>C (Tyr347Cys)
ISCN -
DB-ID GCNT2_000025
Variant remarks no variant 2nd chromosome
Reference PubMed: Slavotinek 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-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_145649.4 +/. - c.1046A>G r.(?) p.(Tyr347Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000315878 DNA SEQ;SEQ-NG - WES GCNT2 1 Johan den Dunnen