Variant #0000682216 (NC_000023.10:g.153043007G>A, PLXNB3(NM_005393.2):c.5125G>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.153043007G>A
DNA change (hg38) -
Published as PLXNB3(NM_001163257.1):c.5194G>A (p.D1732N)
ISCN -
DB-ID SRPK3_000025
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) 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLXNB3 NM_005393.2 ?/. - c.5125G>A r.(?) p.(Asp1709Asn)
SRPK3 NM_014370.3 ?/. - c.-3535G>A r.(?) p.(=)