Variant #0000653491 (NC_000023.10:g.147014114G>A, FMR1(NM_002024.5):c.801G>A)

Individual ID 00295611
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.147014114G>A
DNA change (hg38) g.147932595G>A
Published as -
ISCN -
DB-ID FMR1_000093
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Thierry Bienvenu
Database submission license No license selected
Created by Thierry Bienvenu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMR1 NM_002024.5 +/. 8 c.801G>A - r.spl? p.(Glu267=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296782 DNA SEQ-NG-I blood - FMR1 1 Thierry Bienvenu