Individual #00000093

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     
0000000093 DNA SEQ-NG - - ATP7A, ATP7B, GLB1, HBA1, SERPINA1, SMPD1 7 LOVD-team, but with Curator vacancy



Variants

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

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
3 Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GLB1, TMPPE ./. - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - r.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - - - - - -
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.94844947C>T g.94378610C>T - - SERPINA1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.1096G>A - - r.(?) p.(Glu366Lys) - - - - - - - - - - - - - - - - - - - - - - -
14 Both (homozygous) 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.? - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.77244777_77244781del - EXON 3, C.658_662DELATCTC, I220FS, CHRX:77131432_77131436DELATCTC - ATP7A_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7A ./. - - - - - - NM_000052.4:c.659_663del, NM_000052.5:c.659_663del - - r.(?) p.(Ile220Serfs*9) - - - - - - - - - - - - - - - - - - - - - - -
Legend