Variant #0000618931 (NC_000023.10:g.118123468G>A, LONRF3(NM_001031855.1):c.1157G>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.118123468G>A
DNA change (hg38) g.118989505G>A
Published as LONRF3(NM_001031855.2):c.1157G>A (p.G386D)
ISCN -
DB-ID LONRF3_000032
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LONRF3 NM_001031855.1 -?/. - c.1157G>A r.(?) p.(Gly386Asp)