Variant #0000287820 (NC_000023.10:g.147010281T>C, FMR1(NM_002024.5):c.375T>C)

Chromosome X
Allele Unknown
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.147010281T>C
DNA change (hg38) g.147928763T>C
Published as FMR1(NM_002024.5):c.375T>C (p.T125=)
ISCN -
DB-ID FMR1_000071
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00059 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMR1 NM_002024.5 -?/. - c.375T>C - r.(?) p.(Thr125=)