Variant #0000021436 (NC_000006.11:g.10529649G>A, GCNT2(NM_145649.4):c.505G>A)

Individual ID 00003042
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.10529649G>A
DNA change (hg38) g.10529416G>A
Published as -
ISCN -
DB-ID GCNT2_000004 See all 9 reported entries
Variant remarks -
Reference PubMed: Yu 2003, OMIM:var0004
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site BstNI-
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 ?/? _1 c.-27008G>A r.(=) p.(=)
GCNT2 NM_145649.4 +/? 3 c.505G>A r.(?) p.(Ala169Thr)
GCNT2 NM_145655.3 ?/? _1 c.-56574G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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