Genomic variant #0000621225

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.193311164G>A
DNA change (hg38) g.193593375G>A
Published as OPA1(NM_130837.2):c.-3G>A
ISCN -
DB-ID OPA1_000568
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ?/. - c.-3G>A r.(?) p.(=) -
OPA1 NM_130837.2 ?/. - c.-3G>A r.(?) p.(=) -