Variant #0000081522 (NC_000023.10:g.153034687C>T, PLXNB3(NM_005393.2):c.1466C>T)

Individual ID 00052134
Chromosome X
Allele Maternal (confirmed)
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.153034687C>T
DNA change (hg38) g.153769232C>T
Published as -
ISCN -
DB-ID PLXNB3_000009
Variant remarks not in ExAC or in-house database (312 individuals), variant of unknown significance
Reference -
ClinVar ID -
dbSNP ID rs201696853
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Sander Pajusalu
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Sander Pajusalu
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLXNB3 NM_005393.2 ?/. 6 c.1466C>T r.(?) p.(Pro489Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052082 DNA SEQ;SEQ-NG-I blood - - 2 Sander Pajusalu