Genomic variant #0000394108

Individual ID 00172986
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.112058736C>T
DNA change (hg38) -
Published as Q5Q
ISCN -
DB-ID AMOT_000020
Variant remarks recurrent, found 4 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 4/208 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.15G>A - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173869 DNA SEQ - - TLR8 1 Lucy Raymond