Individual #00414706

ID_report NA03575
Reference PubMed: Bell 2011
Remarks -
Gender ?
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-02 11:28:48 +02:00 (CEST)
Date last edited N/A


Phenotypes

retinal disease (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000306501 - - Tay-Sachs disease Familial, autosomal recessive - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415987 DNA;RNA SEQ-NG blood - HEXA 12 LOVD



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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     

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VIP     

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Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

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Exon_old     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Unknown -/. - benign g.76199277A>C g.75733592A>C ACADM 1:75971865 (hg18) het CM066527 6.7% - ACADM_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD ACADM - - - - - NM_000016.4:c.351A>C - r.(?) p.(Thr117=) - - - - - - - - - - - - - -
1 Unknown -/. - benign g.155205634T>C g.155235843T>C GBA 1:153472258 (hg18) het CM880036 - GBA_000005 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD GBA - - - - - NM_000157.3:c.1226A>G - r.(?) p.(Asn409Ser) - - - - - - - - - - - - - -
3 Unknown -/. - benign g.33138549G>A g.33097057G>A GLB1 3:33113553 (hg18) het CM055955 70.2% - GLB1_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD GLB1, TMPPE - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - r.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - -
5 Unknown -/. - benign g.78135241C>T g.78839418C>T ARSB 5:78170997 (hg18) het CM003999 9.6% - ARSB_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD ARSB - - - - - NM_000046.3:c.1151G>A - r.(?) p.(Ser384Asn) - - - - - - - - - - - - - -
6 Unknown -/. - benign g.18122506G>A g.18122275G>A NHLRC1 6:18230485 (hg18) het CM065338 60.6% - NHLRC1_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD NHLRC1 - - - - - NM_198586.2:c.332C>T - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - -
6 Unknown -/. - benign g.32007849G>C g.32040072G>C CYP21A2 6:32115828 (hg18) het CM994664 10.6% - CYP21A2_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD CYP21A2 - - - - - NM_000500.7:c.806G>C - r.(?) p.(Ser269Thr) - - - - - - - - - - - - - -
11 Unknown -/. - benign g.68562328C>T g.68794860C>T CPT1A 11:68318904 (hg18) het CM033597 8.7% - CPT1A_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD CPT1A - - - - - NM_001876.3:c.823G>A - r.(?) p.(Ala275Thr) - - - - - - - - - - - - - -
13 Unknown -/. - benign g.52515354A>G g.51941218A>G ATP7B 13:51413355 (hg18) het CM044579 84.6% - ATP7B_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD ATP7B - - - - - NM_000053.3:c.3419T>C - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - -
14 Unknown -/. - benign g.94844843T>G g.94378506T>G SERPINA1 14:93914596 (hg18) het CM900187 43.3% - SERPINA1_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD SERPINA1 - - - - - NM_001127701.1:c.1200A>C - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - -
15 Maternal (confirmed) +?/. - likely pathogenic g.72638921_72638924dup g.72346580_72346583dup HEXA exon 11, c.1277_1278insTATC, Y427fs - HEXA_000002 causative, compound heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD HEXA - - - - - NM_000520.4:c.1274_1277dup - r.(?) p.(Tyr427Ilefs*5) - - - - - - - - - - - - - -
15 Paternal (confirmed) +?/. - likely pathogenic g.72642859C>T g.72350518C>T HEXA exon 7, c.805G>A, G269S, chr15:70429913G>A (hg18) CM890061 - HEXA_000004 causative, compound heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD HEXA - - - - - NM_000520.4:c.805G>A - r.(?) p.(Gly269Ser) - - - - - - - - - - - - - -
20 Unknown -/. - benign g.43255220T>C g.44626579T>C ADA 20:42688634 (hg18) het CM860001 14.4% - ADA_000030 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD ADA - - - - - NM_000022.2:c.239A>G - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - -
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