Variant #0000824560 (NC_000023.10:g.67412429_67434173dup, OPHN1(NM_002547.2):c.487-358_1276+333dup)

Individual ID 00392513
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method other
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.67412429_67434173dup
DNA change (hg38) g.68192587_68214331dup
Published as -
ISCN -
DB-ID OPHN1_000102 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID SUB10705428
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Dr. Laxmi Kirola
Database submission license No license selected
Created by Dr. Laxmi Kirola
Date created 2021-11-23 08:58:30 +01:00 (CET)
Date last edited 2021-11-25 09:46:59 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 +?/. - c.487-358_1276+333dup r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000393759 DNA arrayCGH;PCR;RT-PCR;RT-PCRq;SEQ-NG;SEQ-NG-I blood The clinical pontocerebellar hypoplasia sequencing panel - 1 Dr. Laxmi Kirola