Genomic variant #0000222893

Individual ID 00132807
Chromosome 16
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67976512A>G
DNA change (hg38) g.67942609A>G
Published as T2327C IVS4-22
ISCN -
DB-ID LCAT_000101
Variant remarks variant not in 336 control chromosomes; branchpoint variant; effect confirmed using mini-gene expression
Reference PubMed: Kuivenhoven 1996
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
LCAT NM_000229.1 +/. 4i c.524-22T>C - r.523_524ins[523+1_524-23;c;524-21_524-1] p.Gln176Glufs*6



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133641 DNA;RNA RT-PCR;SEQ - - LCAT 2 Johan den Dunnen