Variant #0000795669 (NC_000023.10:g.67652859C>G, OPHN1(NM_002547.2):c.4G>C)

Individual ID 00380821
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.67652859C>G
DNA change (hg38) g.68433017C>G
Published as NM_002547.2:c.4G>C; p.Gly2Arg
ISCN -
DB-ID OPHN1_000100
Variant remarks -
Reference PubMed: Nair 2018
ClinVar ID -
dbSNP ID rs1200813419
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 +?/. - c.4G>C r.(?) p.(Gly2Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000382035 DNA SEQ-NG-I - whole exome sequencing - 1 LOVD