Variant #0000540804 (NC_000010.10:g.73768040G>C, CHST3(NM_004273.4):c.1251G>C)

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.73768040G>C
DNA change (hg38) g.72008282G>C
Published as CHST3(NM_004273.4):c.1251G>C (p.T417=)
ISCN -
DB-ID CHST3_000020 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00068 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHST3 NM_004273.4 -?/. - c.1251G>C r.(?) p.(Thr417=)