Screening #0000000069

Individual ID 00000069
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 17
Owner name LOVD-team, but with Curator vacancy


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AHI1 Abelson helper integration site 1 6 q23.2 2 148 101 2019-07-05 ID, JBTS-1, JBTS-3
ARSB arylsulfatase B 5 p11-q13 1 39 26 2019-06-28 MPS-6
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 191 2019-07-05 Wilson
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 2 q33-qter 1 139 99 2019-07-15 xanthomatosis, cerebrotendinous
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 15 2019-07-05 MADD
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
HEXA hexosaminidase A (alpha polypeptide) 15 q24.1 1 45 35 2017-09-01 TSD
HEXB hexosaminidase B (beta polypeptide) 5 q13.3 1 75 35 2019-07-05 Sandhoff
LAMA2 laminin, alpha 2 6 q22-q23 1 2014 612 2019-08-02 ID, LGMDR-23, MDC, MDC-1A
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
MYO5A myosin VA (heavy chain 12, myoxin) 15 q21 1 88 55 2019-07-05 ID, Griscelli syndrome, type 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
PMM2 phosphomannomutase 2 16 p13 1 314 87 2019-03-26 CDG-1A, ID
SBDS Shwachman-Bodian-Diamond syndrome 7 q11.22 1 36 14 2019-07-05 anemia, Shwachman syndrome



Variants found

17 entries on 1 page. Showing entries 1 - 17.
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 FAM20C, MTHFR - - - - - - NM_020223.3:c.796C>T, NM_005957.4:c.1781G>A - pathogenic (recessive), r.(?) p.(Arg266Cys), p.(Arg594Gln) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. g.219678877C>T g.218814154C>T - - CYP27A1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP27A1 - - - - - - NM_000784.3:c.1151C>T - - r.(?) p.(Pro384Leu) - - - - - - - - - - - - - - - - - - -
3 Unknown ?/. 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.73992881A>G g.74697056A>G - - HEXB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXB - - - - - 5 NM_000521.3:c.619A>G - - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. g.74009384del g.74713559del - - HEXB_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXB - - - - - 7 NM_000521.3:c.825del - - r.(?) p.(Ile275Metfs*32) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ARSB - - - - - - NM_000046.3:c.1151G>A - - r.(?) p.(Ser384Asn) - - - - - - - - - - - - - - - - - - -
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.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Unknown - - - 0 - Johan den Dunnen LAMA2 - - - - - 33 NM_000426.3:c.4750G>A - - r.(?) p.(Gly1584Ser) - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. g.135751024G>A g.135429886G>A - - AHI1_000006 - - - - Germline - - - 0 - Gerard C.P. Schaafsma AHI1 - - - - - 18 NM_001134831.1:c.2488C>T, NM_017651.4:c.2488C>T - - r.(?) p.(Arg830Trp) - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SBDS - - - - - - NM_016038.2:c.635T>C - - r.(?) p.(Ile212Thr) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
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.72640388C>T g.72348047C>T INTRON 9, IVS9+1G>A, CHR15:70427442G>A - HEXA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXA - - - - - - NM_000520.4:c.1073+1G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
15 Unknown ?/. g.72645446C>T g.72353105C>T - - HEXA_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXA - - - - - - NM_000520.4:c.533G>A - - r.(?) p.(Arg178His) - - - - - - - - - - - - - - - - - - -
16 Unknown ?/. g.8906914A>C g.8813057A>C - - PMM2_000049 - PubMed: Bell 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma PMM2 - - - - - 7 NM_000303.2:c.590A>C - - r.(?) p.(Glu197Ala) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. g.36339247C>T g.35848345C>T - - NPHS1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 - - - - - - NM_004646.3:c.1223G>A - - r.(?) p.(Arg408Gln) - - - - - - - - - - - - - - - - - - -
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