Variant #0000400952 (NC_000023.10:g.103498952G>A, ESX1(NM_153448.3):c.389C>T)

Individual ID 00173432
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.103498952G>A
DNA change (hg38) g.104254271G>A
Published as A130V
ISCN -
DB-ID ESX1_000026
Variant remarks recurrent, found 2 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ESX1 NM_153448.3 ?/. 2 c.389C>T r.(?) p.(Ala130Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174315 DNA SEQ - - MAGEA4 1 Lucy Raymond