Variant #0000405975 (NC_000023.10:g.153690631G>A, PLXNA3(NM_017514.3):c.1298G>A)

Individual ID 00181184
Chromosome X
Allele Maternal (confirmed)
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.153690631G>A
DNA change (hg38) g.154462291G>A
Published as -
ISCN -
DB-ID PLXNA3_000008 See all 3 reported entries
Variant remarks -
Reference PubMed: Papuc 2019
ClinVar ID -
dbSNP ID rs141197316
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00957 View details
Owner Anaïs Begemann
Database submission license No license selected
Created by Anaïs Begemann
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLXNA3 NM_017514.3 -?/. - c.1298G>A r.(?) p.(Arg433His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182142 DNA SEQ-NG-I blood WES - 1 Anaïs Begemann