Variant #0000021456 (NC_000006.11:g.10529960C>G, GCNT2(NM_145649.4):c.816C>G)

Individual ID 00003054
Chromosome 6
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.10529960C>G
DNA change (hg38) g.10529727C>G
Published as 816G>C (E272D)
ISCN -
DB-ID GCNT2_000007 See all 3 reported entries
Variant remarks -
Reference PubMed: Inaba 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
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.-26697C>G r.(=) p.(=)
GCNT2 NM_145649.4 -/? 3 c.816C>G r.(?) p.(Asp272Glu)
GCNT2 NM_145655.3 ?/? _1 c.-56263C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002963 DNA PCR;SEQ - - GCNT2 3 Johan den Dunnen