Individual #00100342

ID_report -
Reference NOT PUBLISHED
Remarks -
Gender F
Consanguinity no
Country Morocco
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ACRDYS-1
Owner name Arrate Pereda


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100746 DNA SEQ peripheral blood - PRKAR1A 2 Arrate Pereda



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
1 Unknown ?/. - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A, SAMHD1 - - - - - 11, 12 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T, NM_015474.3:c.1343T>C - r.(?) p.(Ile543Val), p.(Arg368*), p.(Ile448Thr) - - - - - - - - - - - - - - - - - - - -
17 Unknown +/. - pathogenic g.66526546C>T g.68530405C>T - - PRKAR1A_000010 - NOT PUBLISHED - - De novo - - - 0 - Arrate Pereda - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
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