Variant #0000066687 (NC_000023.10:g.146993570_146993629GGC[14], FMR1(NM_002024.5):c.-128_-69GGC[14])

Individual ID 00038650
Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.146993570_146993629GGC[14]
DNA change (hg38) -
Published as -
ISCN -
DB-ID FMR1_000014
Variant remarks -
Reference PubMed: Eichler 1995, Journal: Eichler 1995
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/406 chromosomes
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 -/- 1 c.-128_-69GGC[14] GGM[14]-14 r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038886 DNA SEQ - - FMR1 1 Johan den Dunnen