Variant #0000335304 (NC_000023.10:g.118148257T>A, LONRF3(NM_001031855.1):c.2062T>A)

Chromosome X
Allele Unknown
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.118148257T>A
DNA change (hg38) g.119014294T>A
Published as LONRF3(NM_001031855.1):c.2062T>A (p.(Ser688Thr))
ISCN -
DB-ID LONRF3_000019
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LONRF3 NM_001031855.1 ?/. - c.2062T>A r.(?) p.(Ser688Thr)