Genomic variant #0000117751

Individual ID 00073794
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.49459866_49459869del
DNA change (hg38) g.49422433_49422436del
Published as 15_18delAAGT
ISCN -
DB-ID AMT_000028 See all 6 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan Van Hove




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AMT NM_000481.3 +/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073955 DNA SEQ - - AMT 2 Johan Van Hove