Screening #0000000075

Individual ID 00000075
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 13
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 191 2019-07-05 Wilson
CDH23 cadherin-related 23 10 q22.1 1 2279 766 2019-07-12 DFN, DFNB, DFNB-12, USH, USH-1, USH-1D
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 15 2019-07-05 MADD
GAA glucosidase, alpha; acid 17 q25.2-q25.3 1 2790 752 2019-07-18 GSD-2
HESX1 HESX homeobox 1 3 p14.3 1 22 11 2018-11-08 ID, dysplasia, septo-optic
IGHMBP2 immunoglobulin mu binding protein 2 11 q13.3 1 366 199 2019-07-05 CMT-2S, DSMA-1
LAMA2 laminin, alpha 2 6 q22-q23 1 2014 612 2019-08-02 ID, LGMDR-23, MDC, MDC-1A
MEFV Mediterranean fever 16 p13.3 1 562 305 2019-09-02 FMF, FMFD
NPHP4 nephronophthisis 4 1 p36 1 210 145 2019-07-17 NPHP-4, SLSN-4
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 289 83 2019-07-28 AATD, COPD



Variants found

13 entries on 1 page. Showing entries 1 - 13.
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.5940243G>A - - - NPHP4_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHP4 - - - - - - NM_015102.4:c.2542C>T - - r.(?) p.(Arg848Trp) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) ?/. g.57232504T>C g.57198476T>C - - HESX1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HESX1 - - - - - - NM_003865.2:c.374A>G - - r.(?) p.(Asn125Ser) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - Gerard C.P. Schaafsma LAMA2 - - - - - 24 NM_000426.3:c.3412G>A - - r.(?) p.(Val1138Met) - - - - - - - - - - - - - - - - - - -
10 Unknown ?/. g.73490271A>G g.71730514A>G - - CDH23_000091 - - - - Germline - - - - - Gerard C.P. Schaafsma CDH23 - - - - - - NM_022124.5:c.3625A>G - - r.(?) p.(Thr1209Ala) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.710T>C - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - -
14 Unknown ?/. g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 - - - - - - NM_001127701.1:c.374G>A - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. g.3293880A>G g.3243880A>G - - MEFV_000007 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV - - - - - 9 NM_000243.2:c.1772T>C - - r.(?) p.(Ile591Thr) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.78081693T>C g.80107894T>C - - GAA_000016 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA - - - - - 5 NM_000152.3:c.953T>C - VUS r.(?) p.(Met318Thr) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.78092070C>T g.80118271C>T - - GAA_000025 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA - - - - - 18 NM_000152.3:c.2560C>T - VUS r.(?) p.(Arg854*) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
Legend