Individual #00000046

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     
0000000046 DNA SEQ-NG - - AGXT, ATP7B, CFTR, CYP27A1, DPYD, EHMT1, GLB1, IGHMBP2, NPHS1, POLG, SERPINA1, SMPD1 15 LOVD-team, but with Curator vacancy



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD ?/. - - - - - - NM_000110.3:c.1627A>G - - r.(?) p.(Ile543Val) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.219678877C>T g.218814154C>T - - CYP27A1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP27A1 ?/. - - - - - - NM_000784.3:c.1151C>T - - r.(?) p.(Pro384Leu) - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.241808308C>A g.240868891C>A - - AGXT_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma AGXT ?/. - - - - - - NM_000030.2:c.26C>A - - r.(?) p.(Thr9Asn) - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) 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.(=) - - - - - - - - - - - - - - - - - - - - - - -
7 Parent #1 g.99355807dup - 25889_25890insA (488Frameshift) - CYP3A4_000008 Enzime activity in_vitro: None PubMed: Westlind-Johnsson 2006 - rs67666821 In vitro (cloned) - - - 0 - Julia Lopez CYP3A4 +/+ - - - - - 13 NM_017460.5:c.1461dup CYP3A4*20 - r.(?) p.(Pro488Thrfs*7) - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117138367_117159446del g.117498313_117519392del INTRON 1_3, 21,080 BP DEL - CFTR_000014 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR ?/. - - - - - 1i_3i NM_000492.3:c.54-5940_273+10250del - VUS r.del? p.(Ser18Argfs*16) - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma CFTR ?/. - - - - - 11 NM_000492.3:c.1521_1523del - VUS r.(?) p.(Phe508del) - - - - - - - - - - - - - - - - - - - - - - -
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 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 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.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.89861826T>C g.89318595T>C - - POLG_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma POLG ?/. - - - - - - NM_001126131.1:c.3428A>G, NM_002693.2:c.3428A>G - - r.(?) p.(Glu1143Gly) - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.791C>G - - r.(?) p.(Pro264Arg) - - - - - - - - - - - - - - - - - - - - - - -
Legend