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, BMD/DMD
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



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.100327088A>G g.99861532A>G - - AGL_000016 - - - - Germline - - - 0 - Johan den Dunnen AGL - - - - - 3 NM_000642.2:c.112A>G - - r.(?) p.(Thr38Ala) - - - - - - - - - - - - - - - - - - -
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