Variant #0000526573 (NC_000006.11:g.10586757G>A, GCNT2(NM_145649.4):c.926-34827G>A)

Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.10586757G>A
DNA change (hg38) g.10586524G>A
Published as GCNT2(NM_145655.3):c.535G>A (p.A179T)
ISCN -
DB-ID GCNT2_000020
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00106 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GCNT2 NM_001491.2 -/. - c.919+29182G>A r.(=) p.(=)
GCNT2 NM_145649.4 -/. - c.926-34827G>A r.(=) p.(=)
GCNT2 NM_145655.3 -/. - c.535G>A r.(?) p.(Ala179Thr)