Variant #0000128180 (NC_000010.10:g.73766929_73766930inv, CHST3(NM_004273.4):c.141-1_141inv)

Individual ID 00079372
Chromosome 10
Allele Paternal (inferred)
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.73766929_73766930inv
DNA change (hg38) g.72007171_72007172inv
Published as IVS2-1G>C and 141G>C
ISCN -
DB-ID CHST3_000002
Variant remarks -
Reference PubMed: Hermanns 2008, Journal: Hermanns 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 No license selected
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHST3 NM_004273.4 +/. 2i_3 c.141-1_141inv r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079445 DNA SEQ - - CHST3 2 Johan den Dunnen