Variant #0000278773 (NC_000016.9:g.67976809C>T, LCAT(NM_000229.1):c.382G>A)

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.67976809C>T
DNA change (hg38) g.67942906C>T
Published as LCAT(NM_000229.1):c.382G>A (p.G128S)
ISCN -
DB-ID LCAT_000119
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LCAT NM_000229.1 ?/. - c.382G>A r.(?) p.(Gly128Ser)
SLC12A4 NM_005072.4 ?/. - c.*1934G>A r.(=) p.(=)