Screening #0000000039

Individual ID 00000039
Template DNA
Technique SEQ-NG
Tissue -
Remarks -
Variants found? 14
Owner name Global Variome, 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 2 169 109 2020-09-15 ID, JBTS, JBTS-3
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 426 214 2020-09-15 Wilson
DPYD dihydropyrimidine dehydrogenase 1 p22 1 200 58 2020-09-15 DMB-p, DPDD, ID
ETFB electron-transfer-flavoprotein, beta polypeptide 19 q13.3-q13.4 2 86 17 2020-09-15 MADD
GAA glucosidase, alpha; acid 17 q25.2-q25.3 1 2939 761 2020-09-15 GSD, GSD-2
GLB1 galactosidase, beta 1 3 p22.3 1 221 101 2020-08-30 gangliosidosis, gangliosidosis-I, gangliosidosis-II, gangliosidosis-III, MPS4B
LAMA2 laminin, alpha 2 6 q22-q23 1 2064 653 2020-09-15 ID, LGMDR-23, MDC, MDC-1A
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1 p36.3 1 127 88 2020-09-15 NTDFS, SCZD, THPH1, homocysteinemia, due to deficiency of MTHFR
NPHP4 nephronophthisis 4 1 p36 1 231 157 2020-09-15 NPHP-4, SLSN-4
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 341 201 2020-09-15 NPHS, NPHS-1
P3H1 prolyl 3-hydroxylase 1 1 p34.1 1 33 29 2020-09-15 OI-8
SBDS Shwachman-Bodian-Diamond syndrome 7 q11.22 1 42 16 2020-09-15 anemia, Shwachman syndrome
SLC26A2 solute carrier family 26 (sulfate transporter), member 2 5 q31-q34 1 108 53 2020-09-15 ACG, ACG-1B, AO-2, DTD, EDM-4



Variants found

14 entries on 1 page. Showing entries 1 - 14.
Legend  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
1 Unknown ?/. - VUS g.5935064T>C g.5875004T>C - - NPHP4_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHP4 - - - - - - NM_015102.4:c.2914A>G - r.(?) p.(Ser972Gly) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma MTHFR - - - - - - NM_005957.4:c.1781G>A - r.(?) p.(Arg594Gln) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.43225040G>A g.42759369G>A - - P3H1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma P3H1 - - - - - - NM_022356.3:c.640C>T - r.(?) p.(Arg214*) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A - - - - - 11 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T - r.(?) p.(Ile543Val), p.(Arg368*) - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) ?/. - VUS 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 ?/. - VUS 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 ?/. - VUS 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) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/. - VUS 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 ?/. - VUS 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 ?/. - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B - - - - - - NM_000053.3:c.3419T>C - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. - VUS g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma GAA - - - - - 2 NM_000152.3:c.271G>A - r.(?) p.(Asp91Asn) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/. - VUS 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 ?/. - VUS 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 ?/. - VUS 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