Variant #0000720610 (NC_000006.11:g.10587025C>T, GCNT2(NM_145649.4):c.926-34559C>T)

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.10587025C>T
DNA change (hg38) -
Published as GCNT2(NM_145655.3):c.803C>T (p.A268V)
ISCN -
DB-ID GCNT2_000028
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) 3.0E-5 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.919+29450C>T r.(=) p.(=)
GCNT2 NM_145649.4 ?/. - c.926-34559C>T r.(=) p.(=)
GCNT2 NM_145655.3 ?/. - c.803C>T r.(?) p.(Ala268Val)