Individual #00000075

Individual_ID -
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     
0000000075 DNA NGS - - ATP7B, CDH23, ETFB, GAA, HESX1, IGHMBP2, LAMA2, MEFV, NPHP4, SERPINA1 13 LOVD-team, but with Curator vacancy



Variants

13 entries on 1 page. Showing entries 1 - 13.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

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     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
1 Unknown g.5940243G>A - - - NPHP4_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHP4 ?/. - - - - - - NM_015102.2:c.2542C>T - - - r.(?) p.(Arg848Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.57232504T>C g.57198476T>C - - HESX1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HESX1 ?/. - - - - - - NM_003865.2:c.374A>G - - - r.(?) p.(Asn125Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 ?/. - - - - - 24 NM_000426.3:c.3412G>A - - - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - - - - - - - - - -
10 Unknown g.73490271A>G g.71730514A>G - - CDH23_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CDH23 ?/. - - - - - - NM_022124.5:c.3625A>G - - - r.(?) p.(Thr1209Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 ?/. - - - - - 14 NM_002180.2:c.2636C>A - - - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) 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.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.1200A>C - - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.374G>A - - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3293880A>G g.3243880A>G - - MEFV_000007 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - 9 NM_000243.2:c.1772T>C - - - r.(?) p.(Ile591Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78081693T>C g.80107894T>C - - GAA_000016 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - 5 NM_000152.3:c.953T>C - - - r.(?) p.(Met318Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78092070C>T g.80118271C>T - - GAA_000025 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - 18 NM_000152.3:c.2560C>T - - - r.(?) p.(Arg854*) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ETFB ?/. - - - - - - NM_001014763.1:c.734C>T, NM_001985.2:c.461C>T - - - r.(?) p.(Thr245Met), p.(Thr154Met) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend