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 International |
Created by |
Anna Tracewska |

Variant on transcripts
Screenings
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