Individual #00000080

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases -
Owner name LOVD-team, but with Curator vacancy


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000080 DNA SEQ-NG - - ATP7B, CDH23, HBA1, NPHS1, SERPINA1, SMPD1 7 LOVD-team, but with Curator vacancy



Variants

7 entries on 1 page. Showing entries 1 - 7.
Legend  

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 Unknown ?/. g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - Gerard C.P. Schaafsma CDH23 - - - - - - NM_022124.5:c.3625A>G - - r.(?) p.(Thr1209Ala) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.6413182G>A - - - SMPD1_000102 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 - - - - - - NM_000543.3:c.887G>A - - r.(?) p.(Arg296Gln) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.6415463G>A - - - SMPD1_000101 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 - - - - - - NM_000543.3:c.1522G>A - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - - NM_000053.3:c.3419T>C - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.710T>C - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HBA1, HBA2, HBM, HBQ1, HBZ - - - - - _1_3_ NM_000558.3:c.-37-u25059_*110+d4774del, NM_000517.4:c.-21292_*8695del, NM_001003938.3:c.-14377_*15587del, NM_005331.4:c.-28866_*1187del, NM_005332.2:c.-1289_*27895del - - r.(?), r.? p.? - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. g.36330277C>G g.35839375C>G - - NPHS1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.2971G>C - - r.(?) p.(Val991Leu) - - - - - - - - - - - - - - - - - - -
Legend