Screening #0000036650

Individual ID 00036580
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Andreas Laner


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 45 22 2019-07-24 ACRDYS-1, CNC-1, NMTC-1, PPNAD-1, myxoma, intracardiac



Variants found

1 entry on 1 page. Showing entry 1.
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     
17 Parent #1 +/. g.66520207_66520208del g.68524066_68524067del - - PRKAR1A_000001 - - - - Germline - - - 0 - Andreas Laner PRKAR1A - - - - - 5 NM_002734.4:c.491_492del - - r.(491_492del) p.(Val164Aspfs*5) - - - - - - - - - - - - - - - - - - -
Legend