Screening #0000106271

Individual ID 00105800
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Lampros Mavrogiannis


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
OPA1 optic atrophy 1 (autosomal dominant) 3 q28-q29 2 807 545 2019-09-26 BEHRS, MTDPS-14, OPA, OPA+, OPA-1, glaucoma, normal tension, susceptibility to



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
3 Unknown +?/? g.193311169G>A g.193593380G>A - - OPA1_000348 Mutation in start codon of gene OPA1 Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis OPA1 - - - - - 1 NM_015560.2:c.3G>A, NM_130837.2:c.3G>A - , likely pathogenic r.?, r.(?) p.?, p.0? Basic (exons 1-3) - - - - - - - - - - - - - - - - - -
3 Parent #1 +?/+? g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis OPA1 - - - - - 2 NM_015560.2:c.113_130del, NM_130837.2:c.113_130del - , likely pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) - - - - - - - - - - - - - - - - - -
Legend