Variant #0000335300 (NC_000023.10:g.118109166_118109170del, LONRF3(NM_001031855.1):c.423_427del)

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.118109166_118109170del
DNA change (hg38) g.118975203_118975207del
Published as LONRF3(NM_001031855.1):c.423_427del (p.?), LONRF3(NM_001031855.2):c.423_427delGGGGG (p.G142Rfs*14)
ISCN -
DB-ID LONRF3_000013 See all 2 reported entries
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) 0.00024 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LONRF3 NM_001031855.1 ?/. - c.423_427del r.(?) p.(Gly142ArgfsTer14)