Variant #0000066684 (NC_000023.10:g.147010320G>A, FMR1(NM_002024.5):c.414G>A)

Individual ID 00038648
Chromosome X
Allele Parent #1
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.147010320G>A
DNA change (hg38) g.147928802G>A
Published as R138R
ISCN -
DB-ID FMR1_000002 See all 2 reported entries
Variant remarks recurrent, found 21 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 21/208 families
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.08142 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMR1 NM_002024.5 -?/. 5 c.414G>A - r.(?) p.(Arg138=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038884 DNA SEQ - - FMR1 1 Lucy Raymond