Variant #0000682218 (NC_000023.10:g.153046972C>T, PLXNB3(NM_005393.2):c.*2478C>T)

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.153046972C>T
DNA change (hg38) -
Published as SRPK3(NM_014370.3):c.203C>T (p.P68L)
ISCN -
DB-ID SRPK3_000027
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     
IDH3G NM_004135.3 ?/. - c.*4355G>A r.(=) p.(=)
PLXNB3 NM_005393.2 ?/. - c.*2478C>T r.(=) p.(=)
SRPK3 NM_014370.3 ?/. - c.203C>T r.(?) p.(Pro68Leu)