Screening #0000241187

Individual ID 00240083
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 86 81 2019-06-11 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.67976657G>A - - - LCAT_000010 - - - - Unknown - - - 0 - M. Mahdi Motazacker LCAT - - - - - 4 NM_000229.1:c.440C>T - pathogenic r.(?) p.(Thr147Ile) - - - - - - - - - - - - - - - - - - -
16 Unknown +/? g.67976974C>G - - - LCAT_000004 - - - - Unknown - - - 0 - M. Mahdi Motazacker LCAT - - - - - 2 NM_000229.1:c.296G>C - pathogenic r.(?) p.(Trp99Ser) - - - - - - - - - - - - - - - - - - -
Legend