Variant #0000348748 (NC_000003.11:g.193334991G>A, OPA1(NM_015560.2):c.473G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.193334991G>A
DNA change (hg38) g.193617202G>A
Published as -
ISCN -
DB-ID OPA1_000043 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) 0.46833 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 -/. - c.473G>A r.(?) p.(Ser158Asn) -
OPA1 NM_130837.2 -/. - c.473G>A r.(?) p.(Ser158Asn) -