Variant #0000300534 (NC_000023.10:g.67426446G>A, OPHN1(NM_002547.2):c.902C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.67426446G>A
DNA change (hg38) g.68206604G>A
Published as OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M)
ISCN -
DB-ID OPHN1_000041 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00221 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 -?/. - c.902C>T r.(?) p.(Thr301Met)