Variant #0000729861 (NC_000010.10:g.73767454G>T, CHST3(NM_004273.4):c.665G>T)

Individual ID 00331360
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.73767454G>T
DNA change (hg38) g.72007696G>T
Published as NM_004273.4:c.665G>T:p.(Arg222Leu)
ISCN -
DB-ID CHST3_000025
Variant remarks -
Reference PubMed: Maddirevula 2018
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 -
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 +/. - c.665G>T r.(?) p.(Arg222Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332579 DNA SEQ;SEQ-NG - WES CHST3 1 -