Variant #0000408087 (NC_000023.10:g.67454412C>A, OPHN1(NM_002547.2):c.403G>T)

Individual ID 00183160
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.67454412C>A
DNA change (hg38) g.68234570C>A
Published as OPHN1 E135*
ISCN -
DB-ID OPHN1_000064
Variant remarks -
Reference PubMed: Hu 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ./. - c.403G>T r.(?) p.(Glu135*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184118 DNA SEQ;SEQ-NG - WES-X chromosome OPHN1 1 Johan den Dunnen