Screening #0000241186

Individual ID 00240082
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name M. Mahdi Motazacker


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
LCAT lecithin-cholesterol acyltransferase 16 q22.1 1 92 86 2019-11-02 FED, deficiency, lecithin:cholesterol acyltransferase (Norum disease)



Variants found

2 entries on 1 page. Showing entries 1 - 2.
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     
16 Unknown +/? g.67974091G>A - - - LCAT_000009 - - - - Unknown - - - 0 - M. Mahdi Motazacker LCAT - - - - - 6 NM_000229.1:c.1039C>T - pathogenic r.(?) p.(Arg347Cys) - - - - - - - - - - - - - - - - - - -
16 Unknown +/? g.67977919T>A - - - LCAT_000002 - - - - Unknown - - - 0 - M. Mahdi Motazacker LCAT - - - - - 1 NM_000229.1:c.86A>T - pathogenic r.(?) p.(Asn29Ile) - - - - - - - - - - - - - - - - - - -
Legend