Individual #00000029

ID_report -
Reference PubMed: Almomani 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     
0000000029 DNA NGS - - ALG9, ASPM, B3GLCT, BBS1, CBS, CC2D1A, CDK5RAP2, DLG3, DNMT3B, DPM1, DPP3, GLI3, JAG1, KRAS, MECP2, MPDU1, NLGN4X, NSD1, PHF8, PMM2, RAI1, REST, SATB2, SCN8A, SHANK3, SLC35C1, TCF4, TSC1, UPF3B, ZEB2, ZNF41 46 LOVD-team, but with Curator vacancy



Variants

46 entries on 1 page. Showing entries 1 - 46.
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     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
1 Parent #1 g.197070442G>T g.197101312G>T - - ASPM_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma ASPM, PRKAR1A +?/+? - - - - - 11 NM_018136.4:c.7939C>A, NM_002734.4:c.980T>C - - - r.(?), r.(980u>c) p.(Leu2647Ile), p.(Ile327Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) g.145161902A>G g.144404335A>G - - ZEB2_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma ZEB2 ?/. - - - - - - NM_014795.3:c.593-205T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) g.200137608T>C g.199272885T>C - - SATB2_000002 - PubMed: Almomani 2011 - rs2881208 Germline - - - 0 - Gerard C.P. Schaafsma SATB2 ?/. - - - - - - NM_001172509.1:c.1741-213A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
4 Parent #1 g.57797414C>T g.56931248C>T - - REST_000001 - PubMed: Almomani 2011 - rs3796529 Germline - - - 0 - Gerard C.P. Schaafsma REST ?/. - - - - - 4 NM_005612.4:c.2390C>T - - - r.(?) p.(Pro797Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Both (homozygous) g.176639304C>G g.177212303C>G - - NSD1_000112 - PubMed: Almomani 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma NSD1 ?/. - - - - - 5i NM_022455.4:c.3796+108C>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.42088222T>C g.42048623T>C - - GLI3_000001 - PubMed: Almomani 2011 - rs846266 Germline - - - 0 - Gerard C.P. Schaafsma GLI3 ?/. - - - - - 5 NM_000168.5:c.547A>G - - - r.(?) p.(Thr183Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
7 Parent #1 g.99359829G>A - 21867C>T (T363M) - CYP3A4_000019 Enzime activity in_vitro: Decrease PubMed: Eiselt 2001, PubMed: Murayama 2002 - rs67784355 In vitro (cloned) - - - 0 - Julia Lopez CYP3A4 +/+ - - - - - 11 NM_017460.5:c.1088C>T CYP3A4*11 - - r.(?) p.(Thr363Met) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Parent #1 g.123171755T>C - - - CDK5RAP2_000004 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma CDK5RAP2 ?/. - - - - - - NM_018249.4:c.4415-161A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Parent #1 g.123171755T>C - - - CDK5RAP2_000004 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma CDK5RAP2 ?/. - - - - - - NM_018249.4:c.4415-161A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) g.135770300G>A g.132894913G>A - - TSC1_000713 - PubMed: Almomani 2011 dbSNP - - Germline - - - 0 - Gerard C.P. Schaafsma TSC1 ?/. - - - - - 23 NM_000368.4:c.*1322C>T - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Both (homozygous) g.45832935G>A g.45811384G>A - - SLC35C1_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma SLC35C1 ?/. - - - - - - NM_018389.4:c.*49G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Parent #1 g.66254085G>T - - - DPP3_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma DPP3 ?/. - - - - - - NM_130443.2:c.435G>T - - - r.(?) p.(Gln145His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Both (homozygous) g.66272142A>G - - - DPP3_000002 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma DPP3 ?/. - - - - - - NM_130443.2:c.1938A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Parent #1 g.66272237G>A - - - DPP3_000003 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma DPP3 ?/. - - - - - - NM_130443.2:c.2033G>A - - - r.(?) p.(Arg678His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Parent #1 g.66282095G>A g.66514624G>A - - BBS1_000061 - PubMed: Almomani 2011 dbSNP - - Germline - - - 0 - Gerard C.P. Schaafsma BBS1, HTT -/- - - - - - 4, 2i NM_024649.4:c.378G>A, NM_002111.6:c.348-2680C= - - - r.(=), r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Parent #1 g.66297363C>T g.66529892C>T - - BBS1_000062 - PubMed: Almomani 2011 dbSNP - - Germline - - - 0 - Gerard C.P. Schaafsma BBS1, HTT -/- - - - - - 14, 2i NM_024649.4:c.1413C>T, NM_002111.6:c.348-2680C= - - - r.(=), r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Parent #1 g.111739379C>T - - - ALG9_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma ALG9, HTT -/- - - - - - 2i NM_024740.2:c.352G>A, NM_002111.6:c.348-2680C= - - - r.(?) p.(Val118Ile), p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Parent #1 g.25359841T>C g.25206907T>C - - KRAS_000011 - PubMed: Almomani 2011 - rs13096 Germline - - - 0 - Gerard C.P. Schaafsma KRAS -?/. - - - - - 5 NM_004985.3:c.*2888A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Parent #1 g.52163789G>A - - - SCN8A_000004 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma SCN8A ?/. - - - - - - NM_014191.2:c.3490+20G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Parent #1 g.52184271T>C - - - SCN8A_000005 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma SCN8A ?/. - - - - - - NM_014191.2:c.4509T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.31821256C>G g.31247119C>G - - B3GLCT_000010 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - 5i NM_194318.3:c.347+20C>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31821992T>C g.31247855T>C - - B3GLCT_000039 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - 6 NM_194318.3:c.348T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31850989G>A g.31276852G>A - - B3GLCT_000018 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - 10i NM_194318.3:c.850+81G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31891746G>A g.31317609G>A - - B3GLCT_000048 - PubMed: Almomani 2011 - rs041073 Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - 13 NM_194318.3:c.1108G>A - - - r.(?) p.(Glu370Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31891746G>A g.31317609G>A - - B3GLCT_000048 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - 13 NM_194318.3:c.1108G>A - - - r.(?) p.(Glu370Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) g.31903834G>T g.31329697G>T - - B3GLCT_000049 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT ?/. - - - - - 15 NM_194318.3:c.*29G>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.100962156A>G g.100309902A>G - - PCCA_000007 - - - rs35719359 Germline - - - 0 - Johan den Dunnen PCCA ?/. - - - - - 16 NM_000282.3:c.1423A>G - - - r.(?) p.(Ile475Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
16 Both (homozygous) g.8941818A>C g.8847961A>C - - PMM2_000050 - PubMed: Almomani 2011 - rs2075827 Germline - - - 0 - Gerard C.P. Schaafsma PMM2 -?/. - - - - - 8 NM_000303.2:c.*136A>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Both (homozygous) g.7491177G>T g.7587859G>T - - MPDU1_000003 - PubMed: Almomani 2011 - rs4227 Germline - - - 0 - Gerard C.P. Schaafsma MPDU1 -?/. - - - - - 7 NM_004870.3:c.*308G>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Parent #1 g.17696755C>A g.17793441C>A - - RAI1_000001 - PubMed: Almomani 2011 - rs11649804 Germline - - - 0 - Gerard C.P. Schaafsma RAI1 ?/. - - - - - 3 NM_030665.3:c.493C>A - - - r.(?) p.(Pro165Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
18 Parent #1 g.53131488C>A g.55464257C>A - - TCF4_000081 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma TCF4 ?/. - - - - - - NM_001083962.1:c.146-120G>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Parent #1 g.14029269A>C g.13918456A>C - - CC2D1A_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma CC2D1A ?/. - - - - - - NM_017721.4:c.874-48A>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Both (homozygous) g.10618574T>C g.10637926T>C - - JAG1_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma JAG1 ?/. - - - - - - NM_000214.2:c.*1572A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Parent #1 g.10620275G>A g.10639627G>A - - JAG1_000002 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma JAG1 ?/. - - - - - - NM_000214.2:c.3528C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Parent #1 g.10633313T>C g.10652665T>C - - JAG1_000003 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma JAG1 ?/. - - - - - - NM_000214.2:c.756-67A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Both (homozygous) g.31396536A>G g.32808730A>G - - DNMT3B_000010 - PubMed: Almomani 2011 - rs2424932 Germline - - - 0 - Gerard C.P. Schaafsma DNMT3B -?/. - - - - - 23 NM_006892.3:c.*827A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
20 Both (homozygous) g.49552904A>G g.50936367A>G - - DPM1_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma DPM1 ?/. - - - - - - NM_003859.1:c.564-105T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
22 Parent #1 g.51133518G>A g.50695090G>A - - SHANK3_000001 - PubMed: Almomani 2011 - rs13055562 Germline - - - 0 - Gerard C.P. Schaafsma SHANK3 ?/. - - - - - 10i NM_033517.1:c.1302+44G>A - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.5810574C>T - - - NLGN4X_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma NLGN4X ?/. - - - - - - NM_020742.2:c.*284G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.47327111T>C g.47467712T>C - - ZNF41_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma ZNF41 ?/. - - - - - - NM_007130.2:c.-231A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.53963624T>C g.53937191T>C - - PHF8_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma PHF8 ?/. - - - - - - NM_015107.2:c.*1967A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.54019295C>T g.53992862C>T - - PHF8_000002 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma PHF8 ?/. - - - - - - NM_015107.2:c.1627-23G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.69673811T>C g.70453961T>C - - DLG3_000004 - PubMed: Almomani 2011 - rs2274309 Germline - - - 0 - Gerard C.P. Schaafsma DLG3, DLG3-AS1 ./. - - - - - 8i NM_021120.3:c.1302+168T>C, XR_244507.1:n.359-655A>G - - - r.(?) p.(=), - - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.69724094G>A g.70504244G>A - - DLG3_000005 - PubMed: Almomani 2011 - rs1044422 Germline - - - 0 - Gerard C.P. Schaafsma DLG3 ?/. - - - - - 19 NM_021120.3:c.*1975G>A - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.118969075A>C g.119835112A>C - - UPF3B_000006 - PubMed: Almomani 2011 - rs2239963 Germline - - - 0 - Gerard C.P. Schaafsma UPF3B ?/. - - - - - 10i NM_080632.2:c.1303-85T>G - - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Both (homozygous) g.153292180T>C g.154026729T>C - - MECP2_000014 - PubMed: Almomani 2011 dbSNP - - Germline - - - 0 - Gerard C.P. Schaafsma MECP2 -?/. - - - - - 4 NM_001110792.1:c.*3638A>G, NM_004992.3:c.*3638A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend