Variant #0000574011 (NC_000023.10:g.147063058G>A, FMR1NB(NM_152578.2):c.136G>A)

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.147063058G>A
DNA change (hg38) g.147981538G>A
Published as FMR1NB(NM_152578.2):c.136G>A (p.E46K)
ISCN -
DB-ID FMR1NB_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 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)     

RNA change     

Protein     
FMR1NB NM_152578.2 -?/. - c.136G>A r.(?) p.(Glu46Lys)