Individual #00000066

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     
0000000066 DNA SEQ-NG - - AHI1, ATP7B, HBB, HEXB, IDUA, MPL, NHLRC1, NPHS1, PKHD1, PMM2, SERPINA1, TTN 14 LOVD-team, but with Curator vacancy



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.43804235_43804236del g.43338564_43338565del - - MPL_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma MPL - - - - - - NM_005373.2:c.235_236del - - r.(?) p.(Leu79Glufs*84) - - - - - - - - - - - - - - - - - - -
2 Unknown +?/. g.179485878G>T g.178621151G>T - - TTN_000621 - - - - Unknown - - - 0 - Johan den Dunnen TTN - - - - - 247 NM_001267550.1:c.45567C>A - - r.(?) p.(Tyr15189*) - - - - - - - - - - - - - - - - - - -
4 Unknown ?/. g.996555G>C - - - IDUA_000060 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IDUA - - - - - 9 NM_000203.3:c.1225G>C - - r.(?) p.(Gly409Arg) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. g.73992881A>G g.74697056A>G - - HEXB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXB - - - - - 5 NM_000521.3:c.619A>G - - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - -
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.51752011G>T g.51887213G>T - - PKHD1_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 - - - - - - NM_138694.3:c.7029C>A - - r.(?) p.(Tyr2343*) - - - - - - - - - - - - - - - - - - -
6 Unknown +/. g.135732497C>A g.135411359C>A - - AHI1_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma AHI1 - - - - - 21 NM_001134831.1:c.2950G>T, NM_017651.4:c.2950G>T - - r.(?) p.(Glu984*) - - - - - - - - - - - - - - - - - - -
11 Unknown -?/. g.5247153G>T g.5225923G>T - - HBB_003016 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HBB - - - - - 2i NM_000518.4:c.316-197C>A - likely benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
11 Unknown +/. g.5247905dup g.5226675dup - - HBB_001186 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HBB - - - - - 2 NM_000518.4:c.217dup - pathogenic r.(?) p.(Ser73Lysfs*2) - - - - - - - - - - - - - - - - - - -
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.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.374G>A - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/+ g.8905018T>C g.8811161T>C - - PMM2_000044 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma PMM2 - - - - - 5 NM_000303.2:c.430T>C - - r.(?) p.(Phe144Leu) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.349G>A - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - -
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