Variant #0000300524 (NC_000023.10:g.67652730C>T, OPHN1(NM_002547.2):c.133G>A)

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.67652730C>T
DNA change (hg38) g.68432888C>T
Published as OPHN1(NM_002547.2):c.133G>A (p.A45T), OPHN1(NM_002547.3):c.133G>A (p.A45T)
ISCN -
DB-ID OPHN1_000050 See all 2 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) 0.00091 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.133G>A r.(?) p.(Ala45Thr)