Genomic variant #0000261025

Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32986041_32986061del
DNA change (hg38) -
Published as APTX(NM_001195249.1):c.484-25_484-5delGTTTTTTTTTTTGTTTTTTTT, APTX(NM_175073.2):c.484-25_484-5delGTTTTTTTTTTTGTTTTTTTT
ISCN -
DB-ID APTX_000072 See all 3 reported entries
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_Utrecht




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APTX NM_175073.2 -?/. - c.484-25_484-5del likely benign r.spl? p.?