Variant #0000659157 (NC_000023.10:g.153042434G>C, PLXNB3(NM_005393.2):c.4926G>C)

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.153042434G>C
DNA change (hg38) g.153776979G>C
Published as PLXNB3(NM_001163257.1):c.4995G>C (p.E1665D)
ISCN -
DB-ID SRPK3_000023
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) 5.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLXNB3 NM_005393.2 ?/. - c.4926G>C r.(?) p.(Glu1642Asp)
SRPK3 NM_014370.3 ?/. - c.-4108G>C r.(?) p.(=)