Variant #0000735363 (NC_000023.10:g.153688719C>T, PLXNA3(NM_017514.3):c.196C>T)

Individual ID 00334968
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.153688719C>T
DNA change (hg38) g.154460379C>T
Published as -
ISCN -
DB-ID PLXNA3_000003 See all 2 reported entries
Variant remarks -
Reference PubMed: Jin 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner LOVD
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.196C>T r.(?) p.(His66Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000336199 DNA SEQ-NG - WES FAM161A, PLXNA3 2 LOVD