Genomic variant #0000537967

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32987594G>T
DNA change (hg38) -
Published as APTX(NM_001195249.1):c.431C>A (p.S144Y)
ISCN -
DB-ID APTX_000035 See all 4 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 (large NGS studies) 0.00584 View details
Owner VKGL-NL_AMC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APTX NM_175073.2 -/. - c.431C>A benign r.(?) p.(Ser144Tyr)