Genomic variant #0000394110

Individual ID 00172987
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.112022298_112022300dup
DNA change (hg38) -
Published as 1857_1858insCCT;K619_A620insP
ISCN -
DB-ID AMOT_000015
Variant remarks recurrent, found 5 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 5/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AMOT NM_133265.2 ?/. - c.1855_1857dup - r.(?) p.(Pro619dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173870 DNA SEQ - - TLR8 1 Lucy Raymond