Variant #0000709348 (NC_000023.10:g.(146993554_146993682)=, FMR1(NM_002024.5):c.(-144_-16)=)

Individual ID 00324867
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.(146993554_146993682)=
DNA change (hg38) g.(147912036_147912164)=
Published as -
ISCN -
DB-ID FMR1_000101 See all 2 reported entries
Variant remarks -
Reference PubMed: Snow 1993
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMR1 NM_002024.5 -/. - c.(-144_-16)= GGM[20] r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000326074 DNA PAGE;PCR - - FMR1 2 Johan den Dunnen