Screening #0000000067

Individual ID 00000067
Template DNA
Technique NGS
Tissue -
Remarks -
Variants found? 18
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ASPA aspartoacylase 17 p13.3 1 15 10 2018-06-03 ID, Spongy degeneration of central nervous system
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 269 130 2018-06-03 Wilson
CDH23 cadherin-related 23 10 q22.1 1 2103 665 2018-07-20 DFN, DFNB, DFNB-12, USH, USH-1, USH-1D
CPT1A carnitine palmitoyltransferase 1A (liver) 11 q13.2 1 18 8 2018-06-03 carnitine palmitoyltransferase I deficiency
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 255 167 2018-06-28 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 76 7 2018-06-03 MADD;GA-2B
GALC galactosylceramidase 14 q31 1 93 55 2018-06-03 Galactosylceramide beta-galactosidase deficiency
GLB1 galactosidase, beta 1 3 p22.3 1 115 34 2018-06-03 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
MEFV Mediterranean fever 16 p13.3 1 527 284 2018-06-03 FMF, FMFD
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1 p36.3 1 57 30 2018-06-03 NTDFS, SCZD, THPH-1, homocysteinemia, due to deficiency of MTHFR
MVK mevalonate kinase 12 q24 1 203 188 2015-11-25 HIDS, ID, MEVA, POROK-3;DSAP-1
NHLRC1 NHL repeat containing 1 6 p22.3 1 73 10 2018-06-03 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 305 185 2018-06-03 NPHS, NPHS-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 261 75 2018-06-03 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 90 42 2018-06-03 ACG-1B, AO-2, DTD, EDM-4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 90 39 2018-06-03 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B
WNT10A wingless-type MMTV integration site family, member 10A 2 q35 1 92 18 2018-06-03 OODD, SSPS, STHAG-4



Variants found

18 entries on 1 page. Showing entries 1 - 18.
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 Unknown g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MTHFR ?/. - - - - - - NM_005957.4:c.1781G>A - - - r.(?) p.(Arg594Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.219755011T>A g.218890289T>A - - WNT10A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma WNT10A ?/. - - - - - - NM_025216.2:c.682T>A - - - r.(?) p.(Phe228Ile) - - - - - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GLB1, TMPPE ./. - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - - r.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 ?/. - - - - - 3 NM_000112.3:c.2065A>T - - - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - NM_198586.2:c.332C>T - - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.32008783C>T g.32041006C>T - - CYP21A2_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - 10 NM_000500.7:c.1360C>T - - - r.(?) p.(Pro454Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
10 Unknown g.73453990C>T g.71694233C>T - - CDH23_000111 - - - - Germline - - - - - Gerard C.P. Schaafsma CDH23 ?/. - - - - - - NM_022124.5:c.2263C>T - - - r.(?) p.(His755Tyr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415463G>A - - - SMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - NM_000543.3:c.1522G>A - - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CPT1A ?/. - - - - - - NM_001876.3:c.823G>A - - - r.(?) p.(Ala275Thr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
12 Unknown g.110034320G>A g.109596515G>A - - MVK_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma MVK ?/. - - - - - 11 NM_000431.2:c.1129G>A - - - r.(?) p.(Val377Ile) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GALC ./. - - - - - 5 NM_000153.3:c.550C>T - - - r.(?) p.(Arg184Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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.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.3304463C>T g.3254463C>T - - MEFV_000001 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/- - - - - - 2 NM_000243.2:c.605G>A - - - r.(?) p.(Arg202Gln) - - - - - - - - - - - - - - - - - - - - - - - - - - -
17 Unknown g.3402354C>A g.3499060C>A - - ASPA_018008 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ASPA ?/. - - - - - 8 NM_000049.2:c.914C>A - - - r.(?) p.(Ala305Glu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.349G>A - - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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