Genomic variant #0000278765

Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.67977871_67977872del
DNA change (hg38) g.67943968_67943969del
Published as LCAT(NM_000229.1):c.138_139delAC (p.R47Afs*55), SLC12A4(NM_005072.4):c.*876_*877delAC
ISCN -
DB-ID LCAT_000128
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.138_139del r.(?) p.(Arg47AlafsTer55)
SLC12A4 NM_005072.4 +/. - c.*876_*877del r.(=) p.(=)