Variant #0000401005 (NC_000023.10:g.103495552T>C, ESX1(NM_153448.3):c.578A>G)

Individual ID 00173548
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.103495552T>C
DNA change (hg38) g.104250871T>C
Published as K193R
ISCN -
DB-ID ESX1_000025
Variant remarks recurrent, found 16 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 16/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.05533 View details
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     
ESX1 NM_153448.3 ?/. 4 c.578A>G r.(?) p.(Lys193Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174431 DNA SEQ - - ATP11C 1 Lucy Raymond