Screening #0000177978

Individual ID 00177082
Template DNA
Technique SEQ-NG-I
Tissue blood
Remarks WES
Variants found? 6
Owner name Anaïs Begemann


Variants found

6 entries on 1 page. Showing entries 1 - 6.
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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     
12 Both (homozygous) -?/. - likely benign g.52760957C>T g.52367173C>T - - KRT85_000004 - Papuc et al., submitted - rs61630004 Germline - - - 0 - Anaïs Begemann KRT85 - - - - - - NM_002283.3:c.233G>A - r.(?) p.(Arg78His) - - - - - - - - - - - - - - - - - - - -
17 Maternal (confirmed) ?/. - VUS g.7605740A>G g.7702422A>G - - WRAP53_000022 - Papuc et al., submitted - rs778192810 Germline - - - 0 - Anaïs Begemann WRAP53 - - - - - - NM_001143992.1:c.1034A>G - r.(?) p.(Tyr345Cys) - - - - - - - - - - - - - - - - - - - -
17 Paternal (confirmed) ?/. - VUS g.7606345G>A g.7703027G>A - - WRAP53_000004 - Papuc et al., submitted - - Germline - - - 0 - Anaïs Begemann WRAP53 - - - - - - NM_001143992.1:c.1303G>A - r.(?) p.(Gly435Arg) - - - - - - - - - - - - - - - - - - - -
17 Paternal (confirmed) +/. - pathogenic g.56355397G>A g.58278036G>A - - MPO_000007 - Papuc et al., submitted - rs28730837 Germline - - - 0 - Anaïs Begemann MPO - - - - - - NM_000250.1:c.995C>T - r.(?) p.(Ala332Val) - - - - - - - - - - - - - - - - - - - -
17 Maternal (confirmed) +/. - pathogenic g.56356502A>G g.58279141A>G - - MPO_000012 - Papuc et al., submitted - rs56378716 Germline - - - 0 - Anaïs Begemann MPO - - - - - - NM_000250.1:c.752T>C - r.(?) p.(Met251Thr) - - - - - - - - - - - - - - - - - - - -
18 Unknown +/. - pathogenic g.19437118_19437119del g.21857157_21857158del - - MIB1_000069 - Papuc et al., submitted - - De novo - - - 0 - Anaïs Begemann MIB1 - - - - - - NM_020774.3:c.2693_2694del - r.(?) p.(Val898Alafs*7) - - - - - - - - - - - - - - - - - - - -
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