Genomic variant #0000247375

Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67976320A>T
DNA change (hg38) -
Published as LCAT(NM_000229.1):c.694T>A (p.S232T)
ISCN -
DB-ID LCAT_000113 See all 2 reported entries
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) 0.02247 View details
Owner VKGL-NL_AMC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
LCAT NM_000229.1 -/. - c.694T>A benign r.(?) p.(Ser232Thr)
SLC12A4 NM_005072.4 -/. - c.*2423T>A benign r.(=) p.(=)