Variant #0000393912 (NC_000023.10:g.153694334C>G, PLXNA3(NM_017514.3):c.2589C>G)

Individual ID 00172790
Chromosome X
Allele Parent #1
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.153694334C>G
DNA change (hg38) g.154465991=
Published as -
ISCN -
DB-ID PLXNA3_000029
Variant remarks recurrent, found 9 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 9/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.20224 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLXNA3 NM_017514.3 ?/. - c.2589C>G r.(?) p.(Asp863Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173673 DNA SEQ - - PLXNA3 1 Lucy Raymond