Variant #0000140377 (NC_000023.10:g.146993570_146993629GGC[37]GGA[1]GGC[7]GGA[1]GGC[9], FMR1(NM_002024.5):c.-128_-69GGC[37]GGA[1]GGC[7]GGA[1]GGC[9])

Individual ID 00081862
Chromosome X
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.146993570_146993629GGC[37]GGA[1]GGC[7]GGA[1]GGC[9]
DNA change (hg38) -
Published as -
ISCN -
DB-ID FMR1_000037
Variant remarks -
Reference -
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 Simon Ardui
Database submission license No license selected
Created by Simon Ardui




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMR1 NM_002024.5 ?/. 1 c.-128_-69GGC[37]GGA[1]GGC[7]GGA[1]GGC[9] GGM[55]-37-1-7-1-9 r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081999 DNA SEQ-PB blood - FMR1 2 Simon Ardui