Variant #0000577050 (NC_000023.10:g.67413749T>C, OPHN1(NM_002547.2):c.1184A>G)

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.67413749T>C
DNA change (hg38) g.68193907T>C
Published as OPHN1(NM_002547.2):c.1184A>G (p.N395S, p.(Asn395Ser)), OPHN1(NM_002547.3):c.1184A>G (p.N395S)
ISCN -
DB-ID OPHN1_000037 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 -?/. - c.1184A>G r.(?) p.(Asn395Ser)