Variant #0000036932 (NC_000023.10:g.67331733G>A, OPHN1(NM_002547.2):c.1489C>T)

Individual ID 00017018
Chromosome X
Allele Maternal (confirmed)
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.67331733G>A
DNA change (hg38) g.68111891G>A
Published as -
ISCN -
DB-ID OPHN1_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Tzschach 2015
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 Andreas Tzschach
Database submission license No license selected
Created by Andreas Tzschach
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 +/. 18 c.1489C>T r.(?) p.(Arg497*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016995 DNA SEQ - - OPHN1 1 Andreas Tzschach