Individual #00000034

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     
0000000034 DNA SEQ-NG - - ATP7B, CBS, CYP21A2, DPYD, ETFB, GLB1, GNPTAB, IGHMBP2, NHLRC1, SERPINA1, SLC26A2, SMPD1 16 LOVD-team, but with Curator vacancy
0000024174 DNA MET;SEQ - - RAD51C 1 Christine Rappaport



Variants

17 entries on 1 page. Showing entries 1 - 17.
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.1114C>T - - r.(?), r.(1114c>u) p.(Ile543Val), p.(Gln372*) - - - - - - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - - - - - - -
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.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 - - - - - 7 NM_000500.7:c.806G>C - - r.(?) p.(Ser269Thr) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
12 Unknown +/. g.102147250_102147251del g.101753472_101753473del - - GNPTAB_000001 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma GNPTAB - - - - - 19 NM_024312.4:c.3501_3502del - - r.(?) p.(Leu1168Glnfs*5) - - - - - - - - - - - - - - - - - - -
12 Unknown +/. g.102153827_102153828insTAGG g.101760049_101760050insTAGG - - GNPTAB_000004 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma GNPTAB - - - - - 16 NM_024312.4:c.3229_3230insCCTA - - r.(?) p.(Tyr1079Leufs*3) - - - - - - - - - - - - - - - - - - -
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 Both (homozygous) ?/. 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.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.374G>A - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. g.94849388G>A g.94383051G>A - - SERPINA1_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.187C>T - - r.(?) p.(Arg63Cys) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.56787304G>A - - - RAD51C_000015 DNA from FFPE tumor tissue: no LOH, no abnormal promotor methylation detected - - - In vitro (cloned) ? - - 0 - Christine Rappaport RAD51C - - - - - 5 NM_058216.1:c.790G>A - - - p.(Gly264Ser) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
21 Unknown ?/. g.44488631T>G g.43068521T>G - - CBS_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma CBS - - - - - 4 NM_000071.2:c.304A>C - - r.(?) p.(Lys102Gln) - - - - - - - - - - - - - - - - - - -
X Unknown -/. g.103031822C>T - - - PLP1_000056 - PubMed: Hübner 2005 - - Germline - 1/133 cases - 0 - Johan den Dunnen PLP1 - - - - - _1 NM_000533.3:c.-102C>T - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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