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 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     
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