Individual #00000013

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases autism
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     
0000000013 DNA SEQ-NG - - AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1 8 LOVD-team, but with Curator vacancy
0000230001 DNA SEQ - - PKLR 1 Richard van Wijk



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.100327088A>G g.99861532A>G - - AGL_000016 - - - - Germline - - - 0 - Johan den Dunnen AGL ?/. - - - - - 3 NM_000642.2:c.112A>G - - r.(?) p.(Thr38Ala) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.155271269C>G - - - PKLR_000076 in vitro expression K562 cells shows significantly reduced promoter activity PubMed: Van Wijk et al, 2003 - - In vitro (cloned) - - - 0 - Richard van Wijk PKLR +/? - - - - - - NM_000298.5:c.-83G>C - pathogenic r.(?) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.26432662G>T g.26209793G>T - - HADHA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HADHA ?/. - - - - - - NM_000182.4:c.1072C>A - - r.(?) p.(Gln358Lys) - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.48619778C>T g.48582345C>T - - COL7A1_000362 - - - - Germline - - - - - Gerard C.P. Schaafsma COL7A1 ?/. - - - - - 46 NM_000094.3:c.4613G>A - - r.(?) p.(Arg1538His) - - - - - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - NM_198586.2:c.332C>T - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415463G>A - - - SMPD1_000101 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - NM_000543.3:c.1522G>A - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.103260383T>C g.102866605T>C - - PAH_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma PAH ?/. - - - - - - NM_000277.1:c.500A>G - - r.(?) p.(Asn167Ser) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3306464G>A g.3256464G>A - - MEFV_000004 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - 1 NM_000243.2:c.124C>T - - r.(?) p.(Arg42Trp) - - - - - - - - - - - - - - - - - - - - - - -
Legend