Variant #0000288264 (NC_000006.11:g.10556910C>G, GCNT2(NM_145649.4):c.925+26841C>G)

Chromosome 6
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.10556910C>G
DNA change (hg38) g.10556677C>G
Published as GCNT2(NM_001491.2):c.254C>G (p.P85R)
ISCN -
DB-ID GCNT2_000011
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00109 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GCNT2 NM_001491.2 -?/. - c.254C>G r.(?) p.(Pro85Arg)
GCNT2 NM_145649.4 -?/. - c.925+26841C>G r.(=) p.(=)
GCNT2 NM_145655.3 -?/. - c.-29313C>G r.(?) p.(=)