Variant #0000683332 (NC_000023.10:g.67331733G>A, OPHN1(NM_002547.2):c.1489C>T)

Individual ID 00307758
Chromosome X
Allele Unknown
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.67331733G>A
DNA change (hg38) g.68111891G>A
Published as -
ISCN -
DB-ID OPHN1_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Grozeva 2015, Journal: Grozeva 2015
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
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.1489C>T r.(?) p.(Arg497*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308898 DNA SEQ;SEQ-NG - 565 gene panel OPHN1 1 Johan den Dunnen