Variant #0000305963 (NC_000023.10:g.153044471G>A, PLXNB3(NM_005393.2):c.5707G>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.153044471G>A
DNA change (hg38) g.153779016G>A
Published as PLXNB3(NM_001163257.1):c.5776G>A (p.E1926K)
ISCN -
DB-ID PLXNB3_000070
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_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.5707G>A r.(?) p.(Glu1903Lys)
SRPK3 NM_014370.3 ?/. - c.-2071G>A r.(?) p.(=)