Individual #00000002

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


Phenotypes

Johanson-Blizzard syndrome (JBS) (JBS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Pancreas/Abnormality     

Age/Diagnosis     

Age/Onset     

Teeth/Number     

Phenotype/Onset     

Scalp/Defect     

Stature     

Thyroid/Dysfunction     

Head/Size     

Heart/Abnormality     

Anomaly/Anus     

Malformation/Genital     

Other malformations     

Phenotype details     

Hearing/Loss     

Nose/Alae     

Protein     

Intellectual_dis     

Owner     
0000086072 - Unknown - - - - - - - - - - - - - - - in vitro assay - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000002 DNA SEQ-NG - - ACADM, ADA, ARSB, ATP7B, CPT1A, CYP21A2, GBA, GLB1, HEXA, NHLRC1, SERPINA1 12 LOVD-team, but with Curator vacancy
0000229993 DNA SEQ - - PKLR 1 Richard van Wijk



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ACADM ?/. - - - - - - NM_000016.4:c.351A>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma GBA ?/. - - - - - - NM_000157.3:c.1226A>G - - r.(?) p.(Asn409Ser) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.155271510A>T - - - PKLR_000075 in vitro expression K562 cells shows no effect on promoter activity PubMed: Van Wijk et al, 2003 - - In vitro (cloned) - - - 0 - Richard van Wijk PKLR -/? - - - - - - NM_000298.5:c.-324T>A - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown 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.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ARSB ?/. - - - - - - NM_000046.3:c.1151G>A - - r.(?) p.(Ser384Asn) - - - - - - - - - - - - - - - - - - - - - - -
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.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CPT1A ?/. - - - - - - NM_001876.3:c.823G>A - - r.(?) p.(Ala275Thr) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.72638924_72638925insGATA g.72346583_72346584insGATA - - HEXA_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXA ?/. - - - - - - NM_000520.4:c.1273_1274insTATC - - r.(?) p.(Tyr427Ilefs*5) - - - - - - - - - - - - - - - - - - - - - - -
15 Unknown g.72642859C>T g.72350518C>T - - HEXA_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXA ?/. - - - - - - NM_000520.4:c.805G>A - - r.(?) p.(Gly269Ser) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
Legend