Variant #0000404702 (NC_000023.10:g.67430081A>G, OPHN1(NM_002547.2):c.746T>C)

Individual ID 00180163
Chromosome X
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.67430081A>G
DNA change (hg38) g.68210239A>G
Published as -
ISCN -
DB-ID OPHN1_000059
Variant remarks -
Reference PubMed: TumienÄ— 2018
ClinVar ID -
dbSNP ID -
Origin De novo
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 +?/. 9 c.746T>C r.(?) p.(Leu249Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181066 DNA SEQ-NG - WES OPHN1 1 Johan den Dunnen