Individual #00000085

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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000085 DNA SEQ-NG - - ADA, ATP7B, ETFB, FGG, FKTN, HEXB, IGHMBP2, MYO5A, NHLRC1, PKHD1, POLG, SERPINA1, SGSH 14 LOVD-team, but with Curator vacancy



Variants

14 entries on 1 page. Showing entries 1 - 14.
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     
4 Unknown ?/. g.155533035G>C g.154611883G>C - - FGG_000000 - - - - Germline - - - 0 - Gerard C.P. Schaafsma FGG - - - - - - NM_021870.2:c.323C>G - - r.(?) p.(Ala108Gly) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. g.73992881A>G g.74697056A>G - - HEXB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXB - - - - - 5 NM_000521.3:c.619A>G - - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) ?/. g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HTT, NHLRC1 - - - - - 2i NM_002111.6:c.348-2680C=, NM_198586.2:c.332C>T - - r.(?) p.(=), p.(Pro111Leu) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.51611651C>A g.51746853C>A - - PKHD1_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma PKHD1 - - - - - - NM_138694.3:c.9866G>T - - r.(?) p.(Ser3289Ile) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
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 Both (homozygous) ?/. 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.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MYO5A - - - - - - NM_000259.3:c.3736C>T - - r.(?) p.(Arg1246Cys) - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. g.89861826T>C g.89318595T>C - - POLG_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma POLG - - - - - - NM_001126131.1:c.3428A>G, NM_002693.2:c.3428A>G - - r.(?) p.(Glu1143Gly) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.78184421C>T g.80210622C>T - - SGSH_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma SGSH - - - - - - NM_000199.3:c.1339G>A - - r.(?) p.(Glu447Lys) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.78184680_78184681del g.80210881_80210882del - - SGSH_000007 Authors description: chr17:g.75799275_75799276del; mutant allele: G; not known correct genotype; mutation misannotated - - - Germline - - - - - Gerard C.P. Schaafsma SGSH - - - - - - NM_000199.3:c.1079_1080del - - r.(?) p.(Thr360Serfs*141) - - - - - - - - - - - - - - - - - - -
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.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA - - - - - - NM_000022.2:c.239A>G - - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - -
Legend