Variant #0000336242 (NC_000023.10:g.153692374G>A, PLXNA3(NM_017514.3):c.1628G>A)

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.153692374G>A
DNA change (hg38) g.154464031G>A
Published as PLXNA3(NM_017514.3):c.1628G>A (p.(Arg543Gln)), PLXNA3(NM_017514.4):c.1628G>A (p.R543Q)
ISCN -
DB-ID PLXNA3_000010 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) 0.00284 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLXNA3 NM_017514.3 ?/. - c.1628G>A r.(?) p.(Arg543Gln)