Variant #0000335012 (NC_000023.10:g.103495088_103495114del, ESX1(NM_153448.3):c.1105_1131del)

Chromosome X
Allele Unknown
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.103495088_103495114del
DNA change (hg38) g.104250407_104250433del
Published as ESX1(NM_153448.3):c.1105_1131del (p.(Gly369_Pro377del))
ISCN -
DB-ID ESX1_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ESX1 NM_153448.3 ?/. - c.1105_1131del r.(?) p.(Gly369_Pro377del)