Variant #0000223235 (NC_000023.10:g.67333022_67333033delinsT, OPHN1(NM_002547.2):c.1410_1420+1delinsA)

Individual ID 00132973
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.67333022_67333033delinsT
DNA change (hg38) g.68113180_68113191delinsT
Published as -
ISCN -
DB-ID OPHN1_000025
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.1410_1420+1delinsA r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133807 DNA SEQ - - - 1 IMGAG