Variant #0001017582 (NC_000002.11:g.86088416C>A, NC_000002.11(NM_003896.3):c.207-1G>T (ST3GAL5))

Individual ID 00457913
Chromosome 2
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.86088416C>A
DNA change (hg38) g.85861293C>A
Published as -
ISCN -
DB-ID ST3GAL5_000019
Variant remarks effect on splicing predicted from mini-gene splicing assay
Reference PubMed: Mu 2024
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-11-21 10:16:10 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ST3GAL5 NM_003896.3 +/. - c.207-1G>T r.(207_318del) p.(Cys70Glufs*81)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000459533 DNA SEQ;SEQ-NG - trio WES - 2 Johan den Dunnen


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