Variant #0000722918 (NC_000010.10:g.73767612G>A, CHST3(NM_004273.4):c.823G>A)

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.73767612G>A
DNA change (hg38) -
Published as CHST3(NM_004273.4):c.823G>A (p.V275M, p.(Val275Met))
ISCN -
DB-ID CHST3_000016 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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHST3 NM_004273.4 ?/. - c.823G>A r.(?) p.(Val275Met)