Individual #00414704

ID_report NA01210
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     
0000306499 - - galactosemia Familial, autosomal recessive - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415985 DNA;RNA SEQ-NG blood - GALT 14 LOVD



Variants

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

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

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P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

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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=) - - - - - - - - - - - - - -
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.(=) - - - - - - - - - - - - - -
3 Unknown -/. - benign g.132401603G>C g.132682759G>C NPHP3 3:133884293 (hg18) het CM032020 - NPHP3_000003 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD NPHP3, NPHP3-ACAD11 - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - -
5 Unknown -/. - benign g.149361221A>T g.149981658A>T SLC26A2 5:149341414 (hg18) hom CM980573 32.7% - SLC26A2_000001 non-causative, homozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD SLC26A2 - - - - - NM_000112.3:c.2065A>T - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - -
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.32006387A>T g.32038610A>T CYP21A2 6:32114366 (hg18) het CM081568 6.7% - CYP21A2_000002 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD CYP21A2 - - - - - NM_000500.7:c.188A>T - r.(?) p.(His63Leu) - - - - - - - - - - - - - -
6 Unknown -/. - benign g.129687396G>A g.129366251G>A LAMA2 6:129729089 (hg18) het CM030232 - LAMA2_000123 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD LAMA2 - - - - - NM_000426.3:c.4750G>A - r.(?) p.(Gly1584Ser) - - - - - - - - - - - - - -
9 Both (homozygous) +?/. - likely pathogenic g.34647528G>C g.34647531G>C GALT exon 3, c.292G>C, D98H, chr9:34637528G>C (hg18) CM910169 - GALT_000025 causative, homozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD GALT - - - - - NM_000155.3:c.292G>C - r.(?) p.(Asp98His) - - - - - - - - - - - - - -
11 Unknown -/. - benign g.68705674C>A g.68938206C>A IGHMBP2 11:68462250 (hg18) het CM055288 44.2% - IGHMBP2_000003 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD IGHMBP2 - - - - - NM_002180.2:c.2636C>A - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - -
19 Unknown -/. - benign g.36342212C>T g.35851310C>T NPHS1 19:41034052 (hg18) het HM080063 36.5% - NPHS1_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD NPHS1 - - - - - NM_004646.3:c.349G>A - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - -
19 Unknown -/. - benign g.51850290G>A g.51347036G>A ETFB 19:56542102 (hg18) het CM940379 67.3% - ETFB_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - LOVD ETFB - - - - - NM_001014763.1:c.734C>T, NM_001985.2:c.461C>T - r.(?) p.(Thr245Met), p.(Thr154Met) - - - - - - - - - - - - - -
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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