Individual #00000054

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ABL
Owner name LOVD-team, but with Curator vacancy


Phenotypes

abetalipoproteinaemia (ABL) (ABL)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000154673 see paper; … abetalipoproteinaemia ABL Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000054 DNA SEQ-NG - - ATM, ATP7B, DPYD, ETFB, GALC, GLB1, GNPTAB, LAMA2, LAMA3, NHLRC1, NPHS1, SERPINA1, SLC26A2 13 LOVD-team, but with Curator vacancy
0000207917 DNA SEQ - - MTTP 1 Johan den Dunnen



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD - - - - - - NM_000110.3:c.1601G>A - - r.(?) p.(Ser534Asn) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. 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.(=) - - - - - - - - - - - - - - - - - - -
4 Unknown +/. g.100510825dup - - - MTTP_000078 - PubMed: Narcisi 1995 - - Germline - - - 0 - Johan den Dunnen MTTP - - - - - 5 NM_000253.2:c.419dup - pathogenic (recessive) r.(?) p.(Asn140Lysfs*2) - - - - - - - - - - - - - - - - - - -
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.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 - - - - - 24 NM_000426.3:c.3412G>A - - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.108098576C>G g.108227849C>G - - ATM_000007 - - - - Germline - - - - - Gerard C.P. Schaafsma ATM, HTT - - - - - 2i NM_000051.3:c.146C>G, NM_002111.6:c.348-2680C>G - VUS, r.(?) p.(Ser49Cys), p.(=) - - - - - - - - - - - - - - - - - - -
12 Unknown +/. g.102163960G>A g.101770182G>A - - GNPTAB_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GNPTAB - - - - - 10 NM_024312.4:c.1123C>T - - r.(?) p.(Arg375*) - - - - - - - - - - - - - - - - - - -
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.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GALC - - - - - 5 NM_000153.3:c.550C>T - - r.(?) p.(Arg184Cys) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
18 Unknown ?/. g.21513888C>T g.23933924C>T - - LAMA3_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma LAMA3 - - - - - - NM_198129.1:c.8851C>T - - r.(?) p.(Arg2951Cys) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.1223G>A - - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - -
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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