Genomic variant #0000487023

Individual ID 00240086
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.67976278C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID LCAT_000005
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner M. Mahdi Motazacker




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
LCAT NM_000229.1 +/? 5 c.736G>T pathogenic r.(?) p.(Val246Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241190 DNA SEQ - - LCAT 1 M. Mahdi Motazacker