Variant #0000021462 (NC_000006.11:g.10586465T>A, GCNT2(NM_145649.4):c.926-35119T>A)

Individual ID 00003057
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.10586465T>A
DNA change (hg38) g.10586232T>A
Published as -
ISCN -
DB-ID GCNT2_000008 See all 3 reported entries
Variant remarks -
Reference PubMed: Lin 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00013 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GCNT2 NM_001491.2 ?/? 3i c.919+28890T>A r.(=) p.(=)
GCNT2 NM_145649.4 ?/? 3i c.926-35119T>A r.(=) p.(=)
GCNT2 NM_145655.3 +/? 3i c.243T>A r.(?) p.(Asn81Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002966 DNA PCRdig - - GCNT2 1 Johan den Dunnen