Genomic variant #0000171636

Individual ID 00105587
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332633C>T
DNA change (hg38) g.193614844C>T
Published as -
ISCN -
DB-ID OPA1_000166
Variant remarks eOPA1 identifier (obsolete):OA_00175; Nucleotide change: C to T at 154 (reference: OPA1 transcript variant 1, NM_015560.1)
Reference PubMed: Ban 2007
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 Yuriko Ban
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.154C>T - r.(?) p.(Arg52*) -
OPA1 NM_130837.2 +/+? 2 c.154C>T pathogenic r.(?) p.(Arg52*) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106058 DNA SEQ Blood - OPA1 1 Yuriko Ban