Variant #0000821784 (NC_000001.10:g.235667505dup, B3GALNT2(NM_152490.3):c.48dup)

Individual ID 00390617
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.235667505dup
DNA change (hg38) g.235504205dup
Published as c.48dupG
ISCN -
DB-ID B3GALNT2_000030
Variant remarks -
Reference PubMed: Song 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
B3GALNT2 NM_152490.3 +/. - c.48dup r.(?) p.(Leu17AlafsTer36)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391858 DNA SEQ;SEQ-NG - - - 2 Johan den Dunnen