Genomic variant #0000558771

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67976391C>G
DNA change (hg38) -
Published as LCAT(NM_000229.1):c.623G>C (p.C208S)
ISCN -
DB-ID LCAT_000145
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.623G>C VUS r.(?) p.(Cys208Ser)
SLC12A4 NM_005072.4 ?/. - c.*2352G>C VUS r.(=) p.(=)