Screening #0000038882

Individual ID 00038646
Template DNA
Technique SEQ
Tissue whole blood, lymphocytes
Remarks -
Variants found? 1
Owner name Irene (Eirini) Fylaktou


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 192 2019-07-05 NPHS, NPHS-1
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 1 q25-q31 1 1042 196 2018-02-21 NPHS, NPHS-2
PLCE1 phospholipase C, epsilon 1 10 q23 1 63 46 2018-12-02 NPHS, NPHS-3
WT1 Wilms tumor 1 11 p13 1 100 71 2019-05-03 DDS, Frasier, Meacham, MESOM, NPHS, NPHS-4, WAGR, WAGRO, WT-1



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     
10 Both (homozygous) +?/. g.252364G>A - - - PLCE1_000003 not in 100 control chromosomes; not in 7 healthy relatives in homozygous state (relatives were either heterozygotes or negative for the variant) - - - Germline ? - - 0 - Irene (Eirini) Fylaktou PLCE1 - - - - - 7 NM_016341.3:c.2827G>C - - r.(?) p.(Ala943Pro) - - - - - - - - - - - - - - - - - - -
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