Variant #0000817779 (NC_000023.10:g.55650788T>G, FOXR2(NM_198451.3):c.644T>G)

Individual ID 00387755
Chromosome X
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.55650788T>G
DNA change (hg38) g.55624355T>G
Published as -
ISCN -
DB-ID FOXR2_000009
Variant remarks novel candidate disease gene
Reference PubMed: Hu 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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     
FOXR2 NM_198451.3 +?/. - c.644T>G r.(?) p.(Val215Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000388986 DNA SEQ;SEQ-NG - - FOXR2 1 Johan den Dunnen