Variant #0000336077 (NC_000023.10:g.153047239G>A, PLXNB3(NM_005393.2):c.*2745G>A)

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.153047239G>A
DNA change (hg38) g.153781784G>A
Published as SRPK3(NM_001170760.1):c.341G>A (p.(Gly114Glu))
ISCN -
DB-ID SRPK3_000009 See all 2 reported entries
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) 0.0015 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     
IDH3G NM_004135.3 -?/. - c.*4088C>T r.(=) p.(=)
PLXNB3 NM_005393.2 -?/. - c.*2745G>A r.(=) p.(=)
SRPK3 NM_014370.3 -?/. - c.341G>A r.(?) p.(Gly114Glu)