Individual #00000035

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
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     
0000000035 DNA SEQ-NG - - ADA, ATP7B, BLM, CFTR, DPYD, ETFB, GLB1, HBB, IGHMBP2, MYO5A, PKHD1, SERPINA1, SMPD1 17 LOVD-team, but with Curator vacancy
0000024175 DNA;RNA MET;RT-PCR;SEQ - - RAD51C 1 Christine Rappaport



Variants

18 entries on 1 page. Showing entries 1 - 18.
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     
1 Unknown ?/. g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A - - - - - 11 NM_000110.3:c.1627A>G, NM_002734.4:c.1004G>T - - r.(?), r.(1004g>u) p.(Ile543Val), p.(Arg335Leu) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD - - - - - - NM_000110.3:c.496A>G - - r.(?) p.(Met166Val) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) ?/. 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.(=) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.51612626A>G g.51747828A>G - - PKHD1_000007 - - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 - - - - - - NM_138694.3:c.9788T>C - - r.(?) p.(Val3263Ala) - - - - - - - - - - - - - - - - - - -
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.5248004G>A g.5226774G>A - - HBB_001164 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HBB - - - - - 2 NM_000518.4:c.118C>T - - r.(?) p.(Gln40*) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.6415463G>A - - - SMPD1_000101 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 - - - - - - NM_000543.3:c.1522G>A - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A - - - - - - NM_000259.3:c.3736C>T - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. g.91292815C>A - - - BLM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma BLM - - - - - - NM_000057.2:c.317C>A - - r.(?) p.(Ser106*) - - - - - - - - - - - - - - - - - - -
17 Unknown -?/. g.56772284A>G - - - RAD51C_000028 DNA from FFPE tumor tissue: no abnormal promotor methylation detected; RNA/cDNA: no abnormalities - - - In vitro (cloned) ? - - 0 - Christine Rappaport RAD51C - - - - - 1i NM_058216.1:c.146-8A>G - - - p.= - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) ?/. 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) - - - - - - - - - - - - - - - - - - -
20 Unknown ?/. g.43249032G>A g.44620391G>A - - ADA_000028 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA - - - - - - NM_000022.2:c.986C>T - - r.(?) p.(Ala329Val) - - - - - - - - - - - - - - - - - - -
20 Unknown +/. g.43255242T>C g.44626601T>C IVS3-2A>G - ADA_000032 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ADA - - - - - 3i NM_000022.2:c.219-2A>G - - r.219_362del p.Gly74_Glu121del - - - - - - - - - - - - - - - - - - -
Legend