Screening #0000000067

Individual ID 00000067
Template DNA
Technique SEQ-NG
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 1 208 85 2019-06-28 Canavan, ID
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
CPT1A carnitine palmitoyltransferase 1A (liver) 11 q13.2 1 19 9 2019-06-28 carnitine palmitoyltransferase I deficiency
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 6 p21.3 1 636 422 2019-07-05 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 15 2019-07-05 MADD
GALC galactosylceramidase 14 q31 1 134 79 2019-06-28 Krabbe
GLB1 galactosidase, beta 1 3 p22.3 1 183 74 2019-07-12 MPS-4B, Gangliosidosis GM1 type 3, gangliosidosis, GM1, infantile, GM1-gangliosidosis, type II
MEFV Mediterranean fever 16 p13.3 1 561 304 2019-06-28 FMF, FMFD
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1 p36.3 1 100 62 2019-07-14 NTDFS, SCZD, THPH-1, homocysteinemia, due to deficiency of MTHFR
MVK mevalonate kinase 12 q24 1 258 221 2019-07-24 HIDS, ID, MEVA, POROK-3;DSAP-1
NHLRC1 NHL repeat containing 1 6 p22.3 1 77 14 2019-07-05 epilepsy, myoclonic, of Lafora
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 192 2019-07-05 NPHS, NPHS-1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 289 83 2019-07-28 AATD, COPD
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 106 52 2019-07-05 ACG, ACG-1B, AO-2, DTD, EDM-4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 11 p15.4-p15.1 1 215 143 2019-07-05 ID, Niemann-Pick disease, type A, Niemann-Pick disease, type B
WNT10A wingless-type MMTV integration site family, member 10A 2 q35 1 108 22 2018-11-01 OODD, SSPS, STHAG-4



Variants found

18 entries on 1 page. Showing entries 1 - 18.
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.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_000061 - - - - Germline - - - 0 - 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_000101 - - - - Germline - - - 0 - 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_008008 - - - - 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