Genomic variant #0000063630

Individual ID 00036435
Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.193311222C>G
DNA change (hg38) g.193593433C>G
Published as -
ISCN -
DB-ID OPA1_000390
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ?/. - c.32+24C>G - r.(?) p.(=) -
OPA1 NM_130837.2 ?/. 1i c.32+24C>G VUS r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036505 DNA SEQ - - OPA1 1 Andreas Laner