Variant #0000036928 (NC_000023.10:g.67652748C>T, OPHN1(NM_002547.2):c.115G>A)

Individual ID 00016958
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.67652748C>T
DNA change (hg38) g.68432906C>T
Published as -
ISCN -
DB-ID OPHN1_000001 See all 3 reported entries
Variant remarks recurrent, found 12 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency 12/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.05779 View details
Owner Lucy Raymond
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 ?/? 2 c.115G>A r.(?) p.(Val39Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016935 DNA SEQ - - OPHN1 1 Lucy Raymond