Individual #00000033

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     
0000000033 DNA SEQ-NG - - ATP7B, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PHEX, SERPINA1, USH2A 13 LOVD-team, but with Curator vacancy
0000024173 DNA MET;SEQ - - RAD51C 1 Christine Rappaport



Variants

14 entries on 1 page. Showing entries 1 - 14.
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     

Non_Public     
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.983C>T - - r.(?) p.(Ile543Val), p.(Ala328Val) - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.26432662G>T g.26209793G>T - - HADHA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HADHA ?/. - - - - - - NM_000182.4:c.1072C>A - - r.(?) p.(Gln358Lys) - - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown 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.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.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - 7 NM_000500.7:c.806G>C - - r.(?) p.(Ser269Thr) - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.32972626A>T g.32398489A>T 10204A>T (K3326X) - BRCA2_000481 - PubMed: Torres 2007 - - Germline - 1/53 cases - 0 - Johan den Dunnen BRCA2 ?/- - - - - - 27 NM_000059.3:c.9976A>T - VUS r.(?) p.(Lys3326*) - - - - - - - - - - - - - - - - - - - - - - - -
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 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) - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.56774077A>G - - - RAD51C_000032 DNA from FFPE tumor tissue: no LOH, no abnormal promotor methylation detected - - - In vitro (cloned) ? - - 0 - Christine Rappaport RAD51C +?/. - - - - - 3 NM_058216.1:c.428A>G - - - p.(Gln143Arg) - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.78086721C>A g.80112922C>A - - GAA_000020 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA ?/. - - - - - 14 NM_000152.3:c.1935C>A - - r.(?) p.(Asp645Glu) - - - - - - - - - - - - - - - - - - - - - - - -
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 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) - - - - - - - - - - - - - - - - - - - - - - - -
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