Variant #0000787339 (NC_000023.10:g.70389625G>A, NLGN3(NM_018977.3):c.2165G>A)

Individual ID 00374794
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.70389625G>A
DNA change (hg38) g.71169775G>A
Published as -
ISCN -
DB-ID NLGN3_000041
Variant remarks -
Reference PubMed: Ganapathy 2019
ClinVar ID -
dbSNP ID rs779740957
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
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     
NLGN3 NM_018977.3 ?/. 7 c.2165G>A r.(?) p.(Arg722Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375988 DNA SEQ-NG - TruSight One panel NLGN3 1 Johan den Dunnen