Variant #0000327144 (NC_000002.11:g.86075310dup, NM_003896.3:c.336dup (ST3GAL5))

Chromosome 2
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.86075310dup
DNA change (hg38) g.85848187dup
Published as ST3GAL5(NM_001042437.1):c.267_268insT (p.(Gln90SerfsTer22))
ISCN -
DB-ID ST3GAL5_000002
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ST3GAL5 NM_003896.3 ?/. - c.336dup r.(?) p.(Gln113SerfsTer22)


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