Variant #0000947386 (NC_000002.11:g.166611166dup, NM_004482.3:c.1597dup (GALNT3))

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.166611166dup
DNA change (hg38) -
Published as GALNT3(NM_004482.4):c.1597dupT (p.Y533Lfs*13)
ISCN -
DB-ID GALNT3_000013
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) Retrieve
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2023-11-27 17:35:39 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT3 NM_004482.3 +/. - c.1597dup r.(?) p.(Tyr533Leufs*13)


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