Variant #0000572784 (NC_000023.10:g.103499034G>C, ESX1(NM_153448.3):c.307C>G)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.103499034G>C
DNA change (hg38) g.104254353G>C
Published as ESX1(NM_153448.3):c.307C>G (p.(Leu103Val))
ISCN -
DB-ID ESX1_000034
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ESX1 NM_153448.3 -?/. - c.307C>G r.(?) p.(Leu103Val)