Variant #0000675061 (NC_000023.10:g.67652736_67652747del, OPHN1(NM_002547.2):c.116_127del)

Individual ID 00307050
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.67652736_67652747del
DNA change (hg38) g.68432894_68432905del
Published as -
ISCN -
DB-ID OPHN1_000086
Variant remarks -
Reference PubMed: Nuovo 2021
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 Sara Nuovo
Database submission license No license selected
Created by Sara Nuovo
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 ?/. - c.116_127del r.(?) p.(Val39_Asp42del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308208 DNA SEQ-NG blood - - 1 Sara Nuovo