Screening #0000106171

Individual ID 00105700
Template DNA
Technique MLPA
Tissue Blood
Remarks -
Variants found? 1
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

1 entry on 1 page. Showing entry 1.
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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 Maternal (confirmed) +?/? g.(193333560_193334966)_(193355071_193355740)dup - 449-?_1035+?dup - OPA1_000279 Large duplication of exons 4-8 (reference: OPA1 transcript variant 1, NM_015560.1) detected by MLPA Mavrogiannis LA, Robertson L, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis OPA1 - - - - - , 3i_10i NM_015560.2:c.(448+1_449-1)_(870+1_871-1)dup, NM_130837.2:c.(448+1_449-1)_(1035+1_1036-1)dup - , likely pathogenic r.? p.? GTPase (exons 10-17) - - - - - - - - - - - - - - - - - -
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