Genomic variant #0000278771

Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67976823C>T
DNA change (hg38) -
Published as LCAT(NM_000229.1):c.368G>A (p.R123H)
ISCN -
DB-ID LCAT_000121
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
LCAT NM_000229.1 +?/. - c.368G>A likely pathogenic r.(?) p.(Arg123His)
SLC12A4 NM_005072.4 +?/. - c.*1920G>A likely pathogenic r.(=) p.(=)