Variant #0000394110 (NC_000023.10:g.112022299_112022301dup, AMOT(NM_133265.2):c.1855_1857dup)

Individual ID 00172987
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.112022299_112022301dup
DNA change (hg38) g.112779071_112779073dup
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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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