Variant #0000763201 (NC_000023.10:g.67432014A>G, OPHN1(NM_002547.2):c.638T>C)

Individual ID 00361599
Chromosome X
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.67432014A>G
DNA change (hg38) g.68212172A>G
Published as -
ISCN -
DB-ID OPHN1_000098
Variant remarks ACMG PM1, PM2, PP2, PP3
Reference PubMed: Anazi 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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 +?/. - c.638T>C r.(?) p.(Leu213Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362827 DNA SEQ-NG - WES OPHN1 1 Johan den Dunnen