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 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Dr. Laxmi Kirola
Database submission license No license selected
Created by Dr. Laxmi Kirola
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