Variant #0000081519 (NC_000023.10:g.(67518939_67652708)_qterdelins[NC_000012.11:(67700000_71500000)_qter], OPHN1(NM_002547.2):c.(154+1::155-1))

Individual ID 00052131
Chromosome X
Allele Unknown
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.(67518939_67652708)_qterdelins[NC_000012.11:(67700000_71500000)_qter]
DNA change (hg38) -
Published as -
ISCN t(X;12)(q11;q15)
DB-ID OPHN1_000000
Variant remarks t(X;12) balanced translocation
Reference PubMed: Bienvenu 1997, PubMed: Billuart 1998, Journal: Billuart 1998
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 +/. 2i c.(154+1::155-1) r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052079 DNA;RNA FISH;MIC;RT-PCR - - OPHN1 4 Johan den Dunnen