Genomic variant #0000537965

Chromosome 9
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.32986039_32986040insCAAAAAAAAAAAAAAAAA
DNA change (hg38) g.32986041_32986042insCAAAAAAAAAAAAAAAAA
Published as APTX(NM_001195249.1):c.484-3_484-2insTTTTTTTTGTTTTTTTTT
ISCN -
DB-ID APTX_000093
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) Variant not found in online data sets
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APTX NM_175073.2 -/. - c.484-3_484-2insTTTTTTTTGTTTTTTTTT r.spl? p.?