Variant #0000993503 (NC_000003.11:g.193332522C>A, NM_015560.2:c.43C>A (OPA1))

Chromosome 3
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.193332522C>A
DNA change (hg38) -
Published as OPA1(NM_130837.2):c.43C>A (p.(Gln15Lys), p.Q15K)
ISCN -
DB-ID OPA1_000318 See all 5 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) 0.00648 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-08-28 13:16:32 +02:00 (CEST)
Date last edited N/A
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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.43C>A r.(?) p.(Gln15Lys) -
OPA1 NM_130837.2 -?/. - c.43C>A r.(?) p.(Gln15Lys) -


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