Genomic variant #0000558773

Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67976395C>T
DNA change (hg38) -
Published as LCAT(NM_000229.1):c.619G>A (p.G207S)
ISCN -
DB-ID LCAT_000147
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
LCAT NM_000229.1 +/. - c.619G>A pathogenic r.(?) p.(Gly207Ser)
SLC12A4 NM_005072.4 +/. - c.*2348G>A pathogenic r.(=) p.(=)