Variant #0000021576 (NC_000023.10:g.147014110G>A, FMR1(NM_002024.5):c.797G>A)

Individual ID 00003130
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.147014110G>A
DNA change (hg38) g.147932591G>A
Published as -
ISCN -
DB-ID FMR1_000013
Variant remarks -
Reference -
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 Leila Myrick
Database submission license No license selected
Created by Leila Myrick
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMR1 NM_002024.5 +/? 8 c.797G>A - r.(?) p.(Gly266Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000003047 DNA SEQ - - FMR1 1 Leila Myrick