Individual #00000068

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     
0000086076 - Unknown - - - - - - - - - - - - - - - in vitro assay - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000068 DNA SEQ-NG - - ADA, ATP7B, BMPR2, CDH23, CYP21A2, ENPP1, ETFB, FKTN, HBB, HGSNAT, IGHMBP2, IVD, MTHFR, MYO5A, NPHS1, SERPINA1 18 LOVD-team, but with Curator vacancy



Variants

18 entries on 1 page. Showing entries 1 - 18.
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.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MTHFR - - - - - - NM_005957.4:c.1781G>A - - r.(?) p.(Arg594Gln) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. g.203420712G>A g.202555989G>A - - BMPR2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma BMPR2 - - - - - 12 NM_001204.6:c.2324G>A - - r.(?) p.(Ser775Asn) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.32008862G>T g.32041085G>T - - CYP21A2_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 - - - - - 10 NM_000500.7:c.1439G>T - - r.(?) p.(Arg480Leu) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.132198239C>G g.131877099C>G - - ENPP1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ENPP1 - - - - - - NM_006208.2:c.1831C>G - VUS r.(?) p.(Leu611Val) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.132201076G>A g.131879936G>A - - ENPP1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma ENPP1 - - - - - - NM_006208.2:c.2002G>A - VUS r.(?) p.(Glu668Lys) - - - - - - - - - - - - - - - - - - -
8 Unknown ?/. g.43052839A>C g.43197696A>C - - HGSNAT_000023 - - - - Germline - - - - - Gerard C.P. Schaafsma HGSNAT - - - - - - NM_152419.2:c.1567A>C - - r.(?) p.(Lys523Gln) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/. g.108366499G>A g.105604218G>A - - FKTN_000035 - - - - Germline - - - - - Gerard C.P. Schaafsma FKTN - - - - - 6 NM_001079802.1:c.373G>A - - r.(?) p.(Gly125Ser) - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - Gerard C.P. Schaafsma CDH23, HTT - - - - - 2i NM_022124.5:c.3625A>G, NM_002111.6:c.348-2680C= - - r.(?) p.(Thr1209Ala), p.(=) - - - - - - - - - - - - - - - - - - -
11 Unknown +?/. g.5248233C>T g.5227003C>T - - HBB_000679 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HBB - - - - - 1 NM_000518.4:c.19G>A - - r.(?) p.(Glu7Lys) - - - - - - - - - - - - - - - - - - -
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 Both (homozygous) ?/. g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.710T>C - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - -
15 Unknown ?/? g.40707154G>A g.40414955G>A - - IVD_000001 - - - - Unknown - - - - - Ivo F.A.C. Fokkema IVD - - - - - 8 NM_002225.3:c.860G>A - - r.(860g>a) p.(Arg287Gln) - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A - - - - - - NM_000259.3:c.3736C>T - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. 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) - - - - - - - - - - - - - - - - - - -
20 Unknown ?/. g.43249032G>A g.44620391G>A - - ADA_000028 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA - - - - - - NM_000022.2:c.986C>T - - r.(?) p.(Ala329Val) - - - - - - - - - - - - - - - - - - -
20 Unknown ?/. g.43251694C>T g.44623053C>T - - ADA_000022 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA - - - - - - NM_000022.2:c.632G>A - - r.(?) p.(Arg211His) - - - - - - - - - - - - - - - - - - -
Legend