Genomic variant #0000171614

Individual ID 00105565
Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193311295G>A
DNA change (hg38) g.193593506G>A
Published as c.1+97G>A
ISCN -
DB-ID OPA1_000144
Variant remarks eOPA1 identifier (obsolete):OA_00154; Nucleotide change: G to A at 1+97 (reference: OPA1 transcript variant 1, NM_015560.1)
Reference PubMed: Han 2006
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 Marc Ferre




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.32+97G>A - r.(?) p.(=) -
OPA1 NM_130837.2 -/-? 1i c.32+97G>A benign r.(?) p.(=) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106036 DNA SEQ Blood - OPA1 1 Marc Ferre