Variant #0000348318 (NC_000006.11:g.10557414C>G, GCNT2(NM_145649.4):c.925+27345C>G)

Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.10557414C>G
DNA change (hg38) g.10557181C>G
Published as -
ISCN -
DB-ID GCNT2_000013
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) 5.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GCNT2 NM_001491.2 ?/. - c.758C>G r.(?) p.(Pro253Arg)
GCNT2 NM_145649.4 ?/. - c.925+27345C>G r.(=) p.(=)
GCNT2 NM_145655.3 ?/. - c.-28809C>G r.(?) p.(=)