Individual #00025124

ID_report -
Reference -
Remarks Father of 00025020 and 00025118
Gender M
Consanguinity ?
Country Germany
Population Caucasian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Healthy/Control
Owner name Inst.Human Genetics - Heidelberg


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025127 DNA SEQ-NG Blood - - 4 Inst.Human Genetics - Heidelberg



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
3 Unknown ?/. g.75786753C>T g.75737602C>T - - ZNF717_000001 - - - - Germline - - - 0 - Inst.Human Genetics - Heidelberg ZNF717 - - - - - 5 NM_001128223.1:c.2021G>A - - r.(?) p.(Arg674His) - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. g.22990087G>A - - - CYFIP1_000001 - - - - Germline - - - 0 - Inst.Human Genetics - Heidelberg CYFIP1 - - - - - 24 NM_014608.2:c.2707G>A - - r.(?) p.(Gly903Ser) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - 0 - Inst.Human Genetics - Heidelberg NPHS1 - - - - - 7 NM_004646.3:c.791C>G - - r.(?) p.(Pro264Arg) - - - - - - - - - - - - - - - - - - -
19 Unknown +/. g.38682843C>T g.38192203C>T - - SIPA1L3_000003 - - - - Germline - - - 0 - Inst.Human Genetics - Heidelberg SIPA1L3 - - - - - 17 NM_015073.1:c.4489C>T - - r.(?) p.(Arg1497*) - - - - - - - - - - - - - - - - - - -
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