Genomic variant #0000273562

Chromosome 18
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.24722713C>T
DNA change (hg38) -
Published as CHST9(NM_031422.5):c.61G>A (p.G21R)
ISCN -
DB-ID CHST9_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AQP4 NM_001650.4 ?/. - c.-277060G>A VUS r.(?) p.(=)
CHST9 NM_031422.5 ?/. - c.61G>A VUS r.(?) p.(Gly21Arg)