Variant #0000081520 (NC_000023.10:g.67430080_67430087dup, OPHN1(NM_002547.2):c.745_752dup)

Individual ID 00052132
Chromosome X
Allele Maternal (confirmed)
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.67430080_67430087dup
DNA change (hg38) g.68210238_68210245dup
Published as 1385insAAGAACTT (AAGAATTC)
ISCN -
DB-ID OPHN1_000012
Variant remarks normal RNA levels; random X-inactivation in carrier females
Reference PubMed: Philip 2003, Journal: Philip 2003, OMIM:var0002
ClinVar ID -
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 +/. 9 c.745_752dup r.745_752dup p.Lys251Asnfs*6



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052080 DNA SEQ - - OPHN1 1 Johan den Dunnen