Screening #0000132909

Individual ID 00132070
Template DNA
Technique SEQ-NG-I
Tissue -
Remarks -
Variants found? 1
Owner name Karina Silveira


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ADAMTSL2 ADAMTS-like 2 9 q34.3 2 73 44 2019-08-05 Geleophysic dysplasia
FBN1 fibrillin 1 15 q21.1 1 1131 965 2019-07-22 ACMID, ECTOL-1, GPHYSD-2, MASS, MFS, SSKS, WMS-2
GNAS GNAS complex locus 20 q13.2-q13.3 5 540 355 2019-07-27 AIMAH-1, ID, MAS;POFD, PAGH-1, PHP-1A, PHP-1B, PHP-1C, POH, PPHP, bleeding time, prolonged, brachydactyly and mental retardation
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.
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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 Unknown +?/. g.66526546C>T g.68530405C>T - - PRKAR1A_000010 - - - - Germline/De novo (untested) - - - 0 - Karina Silveira PRKAR1A - - - - - 11 NM_002734.4:c.1102C>T - - r.(?) p.(Arg368*) - - - - - - - - 0.000 - - - - - - - - - -
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