Variant #0000273555 (NC_000010.10:g.73768136C>T, CHST3(NM_004273.4):c.1347C>T)

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.73768136C>T
DNA change (hg38) g.72008378C>T
Published as CHST3(NM_004273.4):c.1347C>T (p.R449=)
ISCN -
DB-ID CHST3_000009
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) 0.00111 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.1347C>T r.(?) p.(Arg449=)