Variant #0000237842 (NC_000023.10:g.67412773del, OPHN1(NM_002547.2):c.1265del)

Individual ID 00144613
Chromosome X
Allele Both (homozygous)
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.67412773del
DNA change (hg38) g.68192931del
Published as 1265delA
ISCN -
DB-ID OPHN1_000026
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 +/. - c.1265del r.(?) p.(Asn422Metfs*28)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145470 DNA SEQ - - - 1 IMGAG