Screening #0000080068

Individual ID 00079989
Template DNA
Technique SEQ
Tissue blood
Remarks -
Variants found? 2
Owner name Francesca Marta Elli


Variants found

2 entries on 1 page. Showing entries 1 - 2.
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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     
1 Unknown ?/. g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ALG6, PRKAR1A - - - - - 6, 9 NM_013339.3:c.391T>C, NM_002734.4:c.806A>G - - r.(?), r.(806a>g) p.(Tyr131His), p.(Asp269Gly) - - - - - - - - - - - - - - - - - - -
17 Unknown +?/+? g.66525047A>G - - - PRKAR1A_000005 - PubMed: Elli et al. 2016 - - De novo ? - - 0 - Francesca Marta Elli - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
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