Variant #0000305960 (NC_000023.10:g.153040544C>T, PLXNB3(NM_005393.2):c.4141C>T)

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.153040544C>T
DNA change (hg38) g.153775089C>T
Published as PLXNB3(NM_001163257.1):c.4210C>T (p.L1404F)
ISCN -
DB-ID PLXNB3_000062
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) 0.00047 View details
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     
PLXNB3 NM_005393.2 -?/. - c.4141C>T r.(?) p.(Leu1381Phe)