Variant #0000268131 (NC_000010.10:g.73767065C>A, CHST3(NM_004273.4):c.276C>A)

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.73767065C>A
DNA change (hg38) g.72007307C>A
Published as CHST3(NM_004273.4):c.276C>A (p.S92R)
ISCN -
DB-ID CHST3_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license No license selected
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHST3 NM_004273.4 -?/. - c.276C>A r.(?) p.(Ser92Arg)