Individual #00000005

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     
0000000005 DNA SEQ-NG - - ACADM, ATP7B, CFTR, ETFB, GLB1, MEFV, NHLRC1, PKHD1, RAPSN, SERPINA1, SLC26A2, USH2A 12 LOVD-team, but with Curator vacancy
0000229995 DNA SEQ - - PKLR 1 Richard van Wijk



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     

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     
1 Unknown g.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ACADM ?/. - - - - - - NM_000016.4:c.351A>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.155271434delA - - - PKLR_000074 in vitro expression K562 cells shows significant increased promoter activity PubMed: Van Wijk et al, 2003 - - In vitro (cloned) - - - 0 - Richard van Wijk PKLR +?/? - - - - - - NM_000298.5:c.-248delT - likely pathogenic r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.216424275C>G g.216250933C>G - - USH2A_000021 - - - - Germline - - - 0 - Gerard C.P. Schaafsma USH2A ?/. - - - - - 12 NM_206933.2:c.2137G>C - - r.(?) p.(Gly713Arg) - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.33138549G>A g.33097057G>A - - GLB1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GLB1, TMPPE ./. - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - r.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 ?/. - - - - - 3 NM_000112.3:c.2065A>T - - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - NM_198586.2:c.332C>T - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.51611651C>A g.51746853C>A - - PKHD1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - - NM_138694.3:c.9866G>T - - r.(?) p.(Ser3289Ile) - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117232223C>T g.117592169C>T - - CFTR_000059 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR ?/. - - - - - 14 NM_000492.3:c.2002C>T - VUS r.(?) p.(Arg668Cys) - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.47469631G>T - - - RAPSN_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma RAPSN ?/. - - - - - - NM_005055.3:c.264C>A - - r.(?) p.(Asn88Lys) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3293403T>C g.3243403T>C - - MEFV_000009 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - 10 NM_000243.2:c.2084A>G - - r.(?) p.(Lys695Arg) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
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