Variant #0000709345 (NC_000023.10:g.(146993554_146993682)insN[93], FMR1(NM_002024.5):c.(-144_-16)ins(93))

Individual ID 00324865
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(146993554_146993682)insN[93]
DNA change (hg38) g.(147912036_147912164)insN[93]
Published as -
ISCN -
DB-ID FMR1_000100 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 +?/. 1 c.(-144_-16)ins(93) GGM[51] r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000326072 DNA PAGE;PCR - - FMR1 1 Johan den Dunnen