Variant #0000336073 (NC_000023.10:g.153042338C>T, PLXNB3(NM_005393.2):c.4834-4C>T)

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.153042338C>T
DNA change (hg38) g.153776883C>T
Published as PLXNB3(NM_001163257.1):c.4903-4C>T (p.?)
ISCN -
DB-ID PLXNB3_000063
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) 0.00018 View details
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     
PLXNB3 NM_005393.2 ?/. - c.4834-4C>T r.spl? p.?
SRPK3 NM_014370.3 ?/. - c.-4204C>T r.(?) p.(=)