Genomic variant #0000335220

Chromosome X
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.112058796_112058798dup
DNA change (hg38) -
Published as AMOT:NM_001113490.1:c.1195_1196insAGC, NM_133265.2:c.-33_-32insAGC
ISCN -
DB-ID AMOT_000012
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
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_Leiden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AMOT NM_133265.2 -?/. - c.-48_-46dup likely benign - -