Genomic variant #0000558774

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.67976586G>T
DNA change (hg38) g.67942683G>T
Published as LCAT(NM_000229.1):c.511C>A (p.R171=)
ISCN -
DB-ID LCAT_000148
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_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LCAT NM_000229.1 -?/. - c.511C>A r.(?) p.(Arg171=)
SLC12A4 NM_005072.4 -?/. - c.*2157C>A r.(=) p.(=)