Individual #00000032

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases GSD
Owner name LOVD-team, but with Curator vacancy


Phenotypes

storage disease, glycogen (GSD) (GSD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000155151 cardiomyopathy (HP:0001638); respiratory problems (HP:0002093) glycogen storage disease GSD-2, Classic infantile Familial, autosomal recessive 9m - 1y - - Pim Pijnappel



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000032 DNA SEQ-NG - - ADA, ATP7B, BTD, DPYD, GLB1, HEXB, PKHD1, PMM2, RPGRIP1L, SERPINA1, SLC26A2, SMPD1 12 LOVD-team, but with Curator vacancy
0000024172 DNA MET;SEQ - - RAD51C 1 Christine Rappaport
0000208416 DNA SEQ - - GAA 2 Pim Pijnappel



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     

Non_Public     
3 Unknown g.15677019G>A - - - BTD_000024 - - - - Germline - - - - - Gerard C.P. Schaafsma BTD ?/. - - - - - - NM_000060.2:c.133G>A - - r.(?) p.(Gly45Arg) - - - - - - - - - - - - - - - - - - - - - - - -
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.? - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - -
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 Parent #1 g.51923291C>G g.52058493C>G - - PKHD1_000002 - - - - Germline - - - 0 - Gerard C.P. Schaafsma PKHD1 ?/. - - - - - 16 NM_138694.3:c.1342G>C - - r.(?) p.(Gly448Arg) - - - - - - - - - - - - - - - - - - - - - - - -
7 Parent #1 g.99359670G>A - 22026C>T (P416L) - CYP3A4_000016 Enzime activity in_vitro: Decrease PubMed: Eiselt 2001 - rs4986909 In vitro (cloned) - - - 0 - Julia Lopez CYP3A4 +/+ - - - - - 11 NM_017460.5:c.1247C>T CYP3A4*13 - r.(?) p.(Pro416Leu) - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415463G>A - - - SMPD1_000101 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - NM_000543.3:c.1522G>A - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - - - - - -
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.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.710T>C - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.8905010G>A g.8811153G>A - - PMM2_000076 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma PMM2 +/+ - - - - - 5 NM_000303.2:c.422G>A - pathogenic r.(?) p.(Arg141His) - - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.53692694A>G g.53658782A>G - - RPGRIP1L_000011 - - - - Germline - - - 0 - Gerard C.P. Schaafsma RPGRIP1L ?/. - - - - - 11 NM_015272.2:c.1340T>C - - r.(?) p.(Leu447Ser) - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.56772383T>G - - - RAD51C_000030 DNA from FFPE tumor tissue: no LOH, no abnormal promotor methylation detected - - - In vitro (cloned) ? - - 0 - Christine Rappaport RAD51C -?/. - - - - - 2 NM_058216.1:c.237T>G - - - p.= - - - - - - - - - - - - - - - - - - - - - - - -
17 Parent #2 g.78078403_78078410del - - - GAA_000358 - PubMed: Oba-Shinjo 2009 - - Germline - - - 0 - Pim Pijnappel GAA +/. - - - - - 2 NM_000152.3:c.18_25del - - r.(?) p.(Cys8Profs*24) - - - - - - - - - - - - - - - - - - - - - - - -
17 Parent #1 g.78078503C>T - - - GAA_000056 - PubMed: Oba-Shinjo 2009 - - Germline - - - 0 - Pim Pijnappel GAA -/. - - - - - 2 NM_000152.3:c.136T>C - - r.(?) p.(Ser46Pro) - - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - NM_000022.2:c.239A>G - - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - - - - - - -
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