Genomic variant #0000222892

Individual ID 00132807
Chromosome 16
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67976657G>A
DNA change (hg38) g.67942754G>A
Published as C2182T (T123I)
ISCN -
DB-ID LCAT_000010 See all 4 reported entries
Variant remarks -
Reference PubMed: Kuivenhoven 1996
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
LCAT NM_000229.1 +/. 4 c.440C>T - r.440c>u p.Thr147Ile



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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