Screening #0000100785

Individual ID 00100381
Template DNA
Technique SEQ-NG
Tissue peripheral blood
Remarks -
Variants found? 1
Owner name Caroline Silve


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha 17 q23-q24 1 46 23 2019-07-24 ACRDYS-1, CNC-1, NMTC-1, PPNAD-1, myxoma, intracardiac



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     
17 Parent #1 +?/. g.66521967G>A g.68525826G>A - - PRKAR1A_000021 - NOT PUBLISHED - - Germline/De novo (untested) - - - 0 - Caroline Silve PRKAR1A - - - - - 7 NM_002734.4:c.622G>A - - r.(?) p.(Gly208Arg) - - - - - - - - - - - - - - - - - - -
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