Variant #0000081518 (NC_000023.10:g.67316820del, OPHN1(NM_002547.2):c.1579del)

Individual ID 00052130
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.67316820del
DNA change (hg38) g.68096978del
Published as 1578del
ISCN -
DB-ID OPHN1_000010
Variant remarks mRNA hardly detectable (NMD); variant not in 100 control chromosomes
Reference PubMed: Billuart 1998, Journal: Billuart 1998, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 +/. 19 c.1579del r.(?) p.(Ile527Serfs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052078 DNA;RNA DGGE;RT-PCR;SEQ - - OPHN1 1 Johan den Dunnen